A45V (p.Ala45Val) variant of PKD1 (Polycystin-1)
A45V (p.Ala45Val) 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.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- gnomAD rs2092940705
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.04
- CADD 15.00
- PolyPhen-2 0.31
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available