S20F (p.Ser20Phe) variant of RAD51C (O43502)
S20F (p.Ser20Phe) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Fanconi anemia complement. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- rs786203944
- ClinGen CA400336751
- ClinVar RCV000648243
- ClinVar RCV002358853
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Fanconi anemia complement
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.16
- AlphaMissense 0.26
- MetaLR 0.23
- MetaSVM -0.73
- CADD 25.20
- PolyPhen-2 0.82
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Fanconi a)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-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)