A92V (p.Ala92Val) variant of PKD1 (Polycystin-1)
A92V (p.Ala92Val) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A92V (p.Ala92Val) variant details
- p.Ala92Val
- gnomAD rs1375510281
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.03
- MetaLR 0.10
- MetaSVM -1.03
- CADD 8.60
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 2e-05)
- Structural context available