A15V (p.Ala15Val) variant of PKD2 (Polycystin-2)
A15V (p.Ala15Val) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- gnomAD 4-88007777-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.17
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available