A20S (p.Ala20Ser) variant of PKD2 (Polycystin-2)
A20S (p.Ala20Ser) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 4-88007791-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.04
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the Ashkenazi Jewish population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available