M1V (p.Met1Val) variant of RAD51C (O43502)
M1V (p.Met1Val) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs921435798
- ClinGen CA292046776
- ClinVar RCV001013978
- ClinVar RCV001056536
- Uncertain significance
- Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- MetaLR 0.04
- MetaSVM -0.97
- PolyPhen-2 0.00
- SIFT 0.78
- MutPred 0.97
- ClinVar: Uncertain significance (Fanconi anemia complementation group O; Hereditary cancer-predis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)