Y38H (p.Tyr38His) variant of AIP (AH receptor-interacting protein)
Y38H (p.Tyr38His) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y38H (p.Tyr38His) variant details
- p.Tyr38His
- rs531663925
- ClinGen CA6140727
- ClinVar RCV002320666
- ClinVar RCV003718478
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.94
- MetaLR 0.92
- MetaSVM 1.06
- CADD 28.60
- PolyPhen-2 0.86
- SIFT 0.00
- 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 0.00041)
- 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)