C19F (p.Cys19Phe) variant of BRCA2 (P51587)
C19F (p.Cys19Phe) 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.
C19F (p.Cys19Phe) variant details
- p.Cys19Phe
- rs1370260227
- ClinGen CA387753083
- ClinVar RCV000582172
- ClinVar RCV006260364
- Uncertain significance
- Missense
- REVEL 0.25
- AlphaMissense 0.57
- MetaLR 0.02
- MetaSVM -1.09
- CADD 31.00
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)