D44E (p.Asp44Glu) variant of AIP (AH receptor-interacting protein)
D44E (p.Asp44Glu) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D44E (p.Asp44Glu) variant details
- p.Asp44Glu
- gnomAD 11-67487038-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.46
- MetaLR 0.76
- MetaSVM 0.21
- CADD 0.38
- PolyPhen-2 0.09
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available