A10V (p.Ala10Val) variant of PKD1 (Polycystin-1)
A10V (p.Ala10Val) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- gnomAD rs2092941834
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -0.99
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available