A6G (p.Ala6Gly) variant of AIP (AH receptor-interacting protein)
A6G (p.Ala6Gly) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A6G (p.Ala6Gly) variant details
- p.Ala6Gly
- gnomAD 11-67483175-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.18
- MetaLR 0.53
- MetaSVM -0.55
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available