C19Y (p.Cys19Tyr) variant of BRCA2 (P51587)
C19Y (p.Cys19Tyr) 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.
C19Y (p.Cys19Tyr) variant details
- p.Cys19Tyr
- rs1370260227
- ClinGen CA387753081
- ClinVar RCV000776986
- ClinVar RCV001207204
- Uncertain significance
- Missense
- AlphaMissense 0.57
- MetaLR 0.02
- MetaSVM -1.09
- SIFT 0.00
- MutPred 0.63
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)