C19S (p.Cys19Ser) variant of BRCA2 (P51587)
C19S (p.Cys19Ser) 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, population frequency data, and published literature.
C19S (p.Cys19Ser) variant details
- p.Cys19Ser
- rs1370260227
- ClinGen CA387753082
- ClinVar RCV002347561
- TOPMed rs1370260227
- Uncertain significance
- Missense
- REVEL 0.21
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)