R7K (p.Arg7Lys) variant of AIP (AH receptor-interacting protein)
R7K (p.Arg7Lys) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R7K (p.Arg7Lys) variant details
- p.Arg7Lys
- gnomAD 11-67483178-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.20
- MetaLR 0.32
- MetaSVM -0.72
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available