E46Q (p.Glu46Gln) variant of AIP (AH receptor-interacting protein)
E46Q (p.Glu46Gln) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E46Q (p.Glu46Gln) variant details
- p.Glu46Gln
- rs772580337
- ClinGen CA381546521
- ClinVar RCV002026955
- ExAC rs772580337
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.52
- MetaLR 0.77
- MetaSVM 0.63
- CADD 24.90
- PolyPhen-2 0.69
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available