M1L (p.Met1Leu) variant of RAD51C (O43502)
M1L (p.Met1Leu) 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; not provided; Fanconi anemia complement. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs921435798
- ClinGen CA400336042
- ClinVar RCV001013982
- ClinVar RCV001324864
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia complement
- 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 (Hereditary cancer-predisposing syndrome; not provided; Fanconi a)
- 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)