F6C (p.Phe6Cys) variant of RAD51C (O43502)
F6C (p.Phe6Cys) 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; Fanconi anemia complementation group O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
F6C (p.Phe6Cys) variant details
- p.Phe6Cys
- rs771332058
- ClinGen CA400336224
- ClinVar RCV002044085
- ClinVar RCV005262544
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.12
- MetaLR 0.03
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.83
- MutPred 0.27
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- 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)