C135F (p.Cys135Phe) variant of RAD51C (O43502)
C135F (p.Cys135Phe) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complement. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
C135F (p.Cys135Phe) variant details
- p.Cys135Phe
- rs767796996
- ClinGen CA400342162
- ClinVar RCV001212223
- ClinVar RCV002322030
- Pathogenic/Likely pathogenic
- Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complement
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- AlphaMissense 0.37
- MetaLR 0.19
- MetaSVM -0.86
- PolyPhen-2 0.59
- SIFT 0.48
- MutPred 0.78
- ClinVar: Pathogenic/Likely pathogenic (Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi a)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)