F17S (p.Phe17Ser) variant of RAD51C (O43502)
F17S (p.Phe17Ser) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hereditary cancer-predisposing syndrome; not provided. 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.
F17S (p.Phe17Ser) variant details
- p.Phe17Ser
- rs1411454855
- ClinGen CA400336673
- ClinVar RCV000780674
- ClinVar RCV001045174
- Conflicting interpretations
- not specified; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.38
- MetaLR 0.14
- MetaSVM -0.99
- PolyPhen-2 0.95
- SIFT 0.01
- MutPred 0.44
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hereditary cancer-predisposing syndrome; not prov)
- EBI: Benign
- UniProt: Benign
- 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)