E191K (p.Glu191Lys) variant of RAD51C (O43502)
E191K (p.Glu191Lys) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E191K (p.Glu191Lys) variant details
- p.Glu191Lys
- rs1598460983
- ClinGen CA400345557
- ClinVar RCV000799274
- ClinVar RCV003372854
- Pathogenic/Likely pathogenic
- Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.08
- AlphaMissense 0.08
- MetaLR 0.20
- MetaSVM -0.85
- CADD 26.30
- PolyPhen-2 0.01
- ClinVar: Pathogenic/Likely pathogenic (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)