G14V (p.Gly14Val) variant of VHL (P40337)
G14V (p.Gly14Val) in VHL (P40337) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- gnomAD 3-10141888-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.40
- MetaLR 0.56
- MetaSVM -0.40
- CADD 18.70
- PolyPhen-2 0.99
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available