M10V (p.Met10Val) variant of RAD51C (O43502)
M10V (p.Met10Val) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
M10V (p.Met10Val) variant details
- p.Met10Val
- rs1452865935
- ClinGen CA400336377
- ClinVar RCV002438032
- ClinVar RCV003102853
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.16
- MetaLR 0.25
- MetaSVM -0.95
- PolyPhen-2 0.99
- SIFT 0.12
- MutPred 0.42
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Breast-ovarian cancer,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)