G13V (p.Gly13Val) variant of PKD2 (Polycystin-2)
G13V (p.Gly13Val) 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.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- gnomAD 4-88007771-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.11
- CADD 23.20
- PolyPhen-2 0.32
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available