D45E (p.Asp45Glu) variant of AIP (AH receptor-interacting protein)
D45E (p.Asp45Glu) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
D45E (p.Asp45Glu) variant details
- p.Asp45Glu
- rs181969066
- 1000Genomes rs181969066
- ExAC rs181969066
- TOPMed rs181969066
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.19
- MetaLR 0.29
- MetaSVM -0.65
- CADD 0.21
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)