S20A (p.Ser20Ala) variant of RAD51C (O43502)
S20A (p.Ser20Ala) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
S20A (p.Ser20Ala) variant details
- p.Ser20Ala
- rs2143675675
- ClinGen CA400336746
- ClinVar RCV002355706
- Ensembl rs2143675675
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.08
- MetaLR 0.05
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.71
- EVE 0.08
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)