M10L (p.Met10Leu) variant of RAD51C (O43502)
M10L (p.Met10Leu) 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; not provided; Hereditary cancer-predispo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
M10L (p.Met10Leu) variant details
- p.Met10Leu
- rs1452865935
- ClinGen CA400336384
- ClinVar RCV000561155
- ClinVar RCV000703119
- Uncertain significance
- Fanconi anemia complementation group O; not provided; Hereditary cancer-predispo
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.21
- AlphaMissense 0.16
- MetaLR 0.25
- MetaSVM -0.95
- CADD 23.40
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Fanconi anemia complementation group O; not provided; Hereditary)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)