D44A (p.Asp44Ala) variant of AIP (AH receptor-interacting protein)
D44A (p.Asp44Ala) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D44A (p.Asp44Ala) variant details
- p.Asp44Ala
- gnomAD 11-67487037-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.49
- MetaLR 0.78
- MetaSVM 0.35
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available