A71E (p.Ala71Glu) variant of PKD1 (Polycystin-1)
A71E (p.Ala71Glu) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A71E (p.Ala71Glu) variant details
- p.Ala71Glu
- TOPMed rs1365988821
- gnomAD rs1365988821
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.05
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available