S20C (p.Ser20Cys) variant of RAD51C (O43502)
S20C (p.Ser20Cys) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.42 / 1. The record also includes published literature and structural context.
S20C (p.Ser20Cys) variant details
- p.Ser20Cys
- rs786203944
- ClinGen CA198382
- ClinVar RCV000167462
- ClinVar RCV000704412
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- AlphaMissense 0.26
- MetaLR 0.23
- MetaSVM -0.73
- PolyPhen-2 0.82
- SIFT 0.01
- EVE 0.49
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Likely benign
- UniProt: Likely benign
- 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)