Q255H (p.Gln255His) variant of BRIP1 (Fanconi anemia group J protein)
Q255H (p.Gln255His) 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 0.76 / 1. The record also includes published literature and structural context.
Q255H (p.Gln255His) variant details
- p.Gln255His
- rs2078111971
- ClinGen CA400484955
- ClinVar RCV001194716
- Ensembl rs2078111971
- Likely pathogenic
- Familial ovarian cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- AlphaMissense 1.00
- MetaLR 0.69
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Familial ovarian cancer)
- EBI: Pathogenic (in FANCJ)
- UniProt: Pathogenic (in FANCJ)
- Structural context available
- Cited in: The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. (PMID 16116423)
- Cited in: Fanconi Anemia. (PMID 20301575)