E20Q (p.Glu20Gln) variant of AIP (AH receptor-interacting protein)
E20Q (p.Glu20Gln) in AIP (AH receptor-interacting protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E20Q (p.Glu20Gln) variant details
- p.Glu20Gln
- gnomAD 11-67483216-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.32
- MetaLR 0.68
- MetaSVM 0.42
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.15
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available