G21S (p.Gly21Ser) variant of AIP (AH receptor-interacting protein)
G21S (p.Gly21Ser) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- rs1865727308
- ClinGen CA381545823
- ClinVar RCV003731815
- ClinVar RCV004950650
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.87
- MetaLR 0.88
- MetaSVM 0.92
- CADD 28.30
- PolyPhen-2 0.78
- SIFT 0.50
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)