G31W (p.Gly31Trp) variant of PKD1 (Polycystin-1)
G31W (p.Gly31Trp) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G31W (p.Gly31Trp) variant details
- p.Gly31Trp
- Ensembl rs2092941325
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.04
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available