P21A (p.Pro21Ala) variant of PKD2 (Polycystin-2)
P21A (p.Pro21Ala) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P21A (p.Pro21Ala) variant details
- p.Pro21Ala
- gnomAD 4-88007794-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0985
- REVEL 0.02
- CADD 11.80
- PolyPhen-2 0.01
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available