A94V (p.Ala94Val) variant of PKD1 (Polycystin-1)
A94V (p.Ala94Val) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A94V (p.Ala94Val) variant details
- p.Ala94Val
- TOPMed rs1428551004
- gnomAD rs1428551004
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.03
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available