G27V (p.Gly27Val) variant of PKD2 (Polycystin-2)
G27V (p.Gly27Val) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- gnomAD 4-88007813-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.13
- CADD 23.00
- PolyPhen-2 0.70
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available