E24V (p.Glu24Val) variant of AIP (AH receptor-interacting protein)
E24V (p.Glu24Val) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E24V (p.Glu24Val) variant details
- p.Glu24Val
- gnomAD 11-67483229-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.20
- MetaLR 0.56
- MetaSVM -0.29
- CADD 18.90
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available