S5C (p.Ser5Cys) variant of BRCA2 (P51587)
S5C (p.Ser5Cys) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and published literature.
S5C (p.Ser5Cys) variant details
- p.Ser5Cys
- rs2138698078
- ClinGen CA387752923
- ClinVar RCV002389892
- Ensembl rs2138698078
- Likely benign
- Missense
- AlphaMissense 0.09
- MetaLR 0.00
- MetaSVM -0.93
- SIFT 0.92
- MutPred 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)