Variant Summary
- Also known as
- RS5030821,C.500G>C,ARG167PRO
- HGVS
- ENST00000256474.2:c.500G>C,NM_000551.3:c.500G>C,NP_000542.1:p.Arg167Pro,NC_000003.11:g.10191507G>C
- Variant Type(s)
- missense_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = R167P (c.500G>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |