A15S (p.Ala15Ser) variant of VHL (P40337)
A15S (p.Ala15Ser) in VHL (P40337) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- gnomAD 3-10141890-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.07
- MetaLR 0.35
- MetaSVM -0.67
- CADD 9.84
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available