A20G (p.Ala20Gly) variant of PKD2 (Polycystin-2)
A20G (p.Ala20Gly) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A20G (p.Ala20Gly) variant details
- p.Ala20Gly
- gnomAD 4-88007792-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.07
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available