S28I (p.Ser28Ile) variant of BRCA2 (P51587)
S28I (p.Ser28Ile) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and published literature.
S28I (p.Ser28Ile) variant details
- p.Ser28Ile
- rs1064793060
- ClinGen CA387754072
- ClinVar RCV002434908
- Uncertain significance
- Missense
- AlphaMissense 0.64
- MetaLR 0.02
- MetaSVM -1.09
- SIFT 0.00
- MutPred 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)