Q25H (p.Gln25His) variant of BRIP1 (Fanconi anemia group J protein)
Q25H (p.Gln25His) 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 0.81 / 1. The record also includes published literature and structural context.
Q25H (p.Gln25His) variant details
- p.Gln25His
- rs1555618712
- ClinGen CA400485936
- ClinVar RCV002394242
- Ensembl rs1555618712
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- 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)