Research use only — not FDA-cleared, not medical advice. Always consult FDA-approved labeling and a qualified clinician.

CIViC Variants/R167W (c.499C>T)

R167W (c.499C>T)

CIViC ID: 1747 · Gene: VHL

Variant Summary

Also known as: C.499C>T,ARG167TRP,R126W,RS5030820
HGVS: NM_000551.3:c.499C>T,NP_000542.1:p.Arg167Trp,NC_000003.11:g.10191506C>T,ENST00000256474.2:c.499C>T
Variant Type(s): missense_variant
Evidence Items: 18

Evidence Level Distribution

Level C: 18

Evidence Items

Showing CIViC evidence rows where gene = VHL and variant = R167W (c.499C>T).

Level	Type	Direction	Significance	Disease	Drugs	Rating
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		4
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		4
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		4
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		4
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		4
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		3
C	Predisposing			Von Hippel-Lindau Disease		3
C	Predisposing			Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		3
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		2
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		2
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		2
C	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		2