W31C (p.Trp31Cys) variant of BRCA2 (P51587)
W31C (p.Trp31Cys) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BC. The record also includes variant effect predictions, population frequency data, and published literature.
W31C (p.Trp31Cys) variant details
- p.Trp31Cys
- rs80359214
- ClinGen CA026139
- ClinVar RCV000164584
- ClinVar RCV000529455
- Pathogenic
- in BC
- Missense
- REVEL 0.42
- MetaLR 0.08
- MetaSVM -1.18
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Cited in: Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. (PMID 16793542)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)