C135W (p.Cys135Trp) variant of RAD51C (O43502)
C135W (p.Cys135Trp) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Fanconi anemia complementation group O; Breast-ovarian cancer, familial, suscept. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
C135W (p.Cys135Trp) variant details
- p.Cys135Trp
- rs537272666
- ClinGen CA400343658
- ClinVar RCV002999827
- ClinVar RCV005248900
- Conflicting interpretations
- Fanconi anemia complementation group O; Breast-ovarian cancer, familial, suscept
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- AlphaMissense 0.92
- MetaLR 0.45
- MetaSVM -0.14
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.76
- ClinVar: Conflicting classifications of pathogenicity (Fanconi anemia complementation group O; Breast-ovarian cancer, f)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)