C19R (p.Cys19Arg) variant of BRCA2 (P51587)
C19R (p.Cys19Arg) 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.
C19R (p.Cys19Arg) variant details
- p.Cys19Arg
- rs2072262127
- ClinGen CA387753076
- ClinVar RCV001187830
- ClinVar RCV002559136
- Uncertain significance
- Missense
- REVEL 0.22
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)