R8S (p.Arg8Ser) variant of BRCA2 (P51587)
R8S (p.Arg8Ser) 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.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- rs1060504600
- ClinGen CA387752969
- ClinVar RCV001015728
- Ensembl rs1060504600
- Likely benign
- Missense
- AlphaMissense 0.55
- MetaLR 0.01
- MetaSVM -1.09
- SIFT 0.00
- MutPred 0.44
- 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)