A42V (p.Ala42Val) variant of PKD1 (Polycystin-1)
A42V (p.Ala42Val) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- TOPMed rs1242983545
- gnomAD rs1242983545
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.05
- CADD 21.90
- PolyPhen-2 0.58
- SIFT 0.39
- Population evidence available
- Structural context available