G47V (p.Gly47Val) variant of AIP (AH receptor-interacting protein)
G47V (p.Gly47Val) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- gnomAD 11-67487046-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.57
- MetaLR 0.86
- MetaSVM 0.65
- CADD 19.50
- PolyPhen-2 0.09
- SIFT 0.08
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available