A42E (p.Ala42Glu) variant of PKD1 (Polycystin-1)
A42E (p.Ala42Glu) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A42E (p.Ala42Glu) variant details
- p.Ala42Glu
- TOPMed rs1242983545
- gnomAD rs1242983545
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.05
- CADD 22.30
- PolyPhen-2 0.80
- SIFT 0.22
- Population evidence available
- Structural context available