G31A (p.Gly31Ala) variant of AIP (AH receptor-interacting protein)
G31A (p.Gly31Ala) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G31A (p.Gly31Ala) variant details
- p.Gly31Ala
- rs756887504
- ClinGen CA6140683
- ClinVar RCV001894697
- ClinVar RCV003164190
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.91
- MetaLR 0.91
- MetaSVM 1.03
- CADD 28.00
- PolyPhen-2 0.97
- SIFT 0.29
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)