R7L (p.Arg7Leu) variant of RAD51C (O43502)
R7L (p.Arg7Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- rs892567748
- ClinGen CA400336251
- ClinVar RCV001043804
- TOPMed rs892567748
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.12
- MetaLR 0.06
- MetaSVM -1.05
- PolyPhen-2 0.10
- SIFT 0.12
- MutPred 0.44
- ClinVar: Uncertain significance (Fanconi anemia complementation group O)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)