Variant Summary
- Also known as
- C.254T>C,LEU85PRO,RS5030828
- HGVS
- NM_000551.3:c.254T>C,NP_000542.1:p.Leu85Pro,NC_000003.11:g.10183785T>C,ENST00000256474.2:c.254T>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 = L85P (c.254T>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |