E128V (p.Glu128Val) variant of PKD1 (Polycystin-1)
E128V (p.Glu128Val) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E128V (p.Glu128Val) variant details
- p.Glu128Val
- gnomAD rs2092679750
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.17
- MetaLR 0.43
- MetaSVM -0.71
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available