G13A (p.Gly13Ala) variant of PKD2 (Polycystin-2)
G13A (p.Gly13Ala) 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.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- gnomAD 4-88007771-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.06
- CADD 19.20
- PolyPhen-2 0.09
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available