A23S (p.Ala23Ser) variant of PKD2 (Polycystin-2)
A23S (p.Ala23Ser) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- gnomAD 4-88007800-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.04
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available