A34V (p.Ala34Val) variant of AIP (AH receptor-interacting protein)
A34V (p.Ala34Val) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- gnomAD 11-67487007-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.37
- MetaLR 0.21
- MetaSVM -0.71
- CADD 16.90
- PolyPhen-2 0.07
- SIFT 1.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available