G21A (p.Gly21Ala) variant of AIP (AH receptor-interacting protein)
G21A (p.Gly21Ala) 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 Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G21A (p.Gly21Ala) variant details
- p.Gly21Ala
- rs1865727360
- ClinGen CA381545827
- ClinVar RCV001237821
- ClinVar RCV002366049
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.84
- MetaLR 0.89
- MetaSVM 0.95
- CADD 24.10
- PolyPhen-2 0.42
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)