D27Y (p.Asp27Tyr) variant of AIP (AH receptor-interacting protein)
D27Y (p.Asp27Tyr) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D27Y (p.Asp27Tyr) variant details
- p.Asp27Tyr
- gnomAD 11-67483237-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.26
- MetaLR 0.67
- MetaSVM -0.04
- CADD 21.90
- PolyPhen-2 0.32
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available