Y16H (p.Tyr16His) variant of BRIP1 (Fanconi anemia group J protein)
Y16H (p.Tyr16His) in BRIP1 (Fanconi anemia group J 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 0.27 / 1. The record also includes published literature and structural context.
Y16H (p.Tyr16His) variant details
- p.Tyr16His
- rs2078972580
- ClinGen CA400486002
- ClinVar RCV001186814
- Ensembl rs2078972580
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- AlphaMissense 0.04
- MetaLR 0.06
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.40
- EVE 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)