A2V (p.Ala2Val) variant of AIP (AH receptor-interacting protein)
A2V (p.Ala2Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs2495387467
- ClinGen CA381545628
- ClinVar RCV004516384
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.26
- MetaLR 0.64
- MetaSVM 0.08
- CADD 24.10
- PolyPhen-2 0.08
- SIFT 0.19
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)