A71V (p.Ala71Val) variant of PKD1 (Polycystin-1)
A71V (p.Ala71Val) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A71V (p.Ala71Val) variant details
- p.Ala71Val
- TOPMed rs1365988821
- gnomAD rs1365988821
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.05
- CADD 9.57
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available