Q793H (p.Gln793His) variant of BRIP1 (Fanconi anemia group J protein)
Q793H (p.Gln793His) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial ovarian cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
Q793H (p.Gln793His) variant details
- p.Gln793His
- rs1567779336
- ClinGen CA400482520
- ClinVar RCV000785562
- Ensembl rs1567779336
- Likely pathogenic
- Familial ovarian cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- AlphaMissense 0.76
- MetaLR 0.52
- MetaSVM 0.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Familial ovarian cancer)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)
- Cited in: Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. (PMID 22964825)