F11C (p.Phe11Cys) variant of BRCA2 (P51587)
F11C (p.Phe11Cys) 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.
F11C (p.Phe11Cys) variant details
- p.Phe11Cys
- rs2138698291
- ClinGen CA387752994
- ClinVar RCV001357257
- ClinVar RCV004034480
- Uncertain significance
- Missense
- REVEL 0.13
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)