D52G (p.Asp52Gly) variant of AIP (AH receptor-interacting protein)
D52G (p.Asp52Gly) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D52G (p.Asp52Gly) variant details
- p.Asp52Gly
- rs776120855
- ClinGen CA6140738
- ClinVar RCV002015680
- ClinVar RCV002258355
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.89
- MetaLR 0.86
- MetaSVM 0.93
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)