W31R (p.Trp31Arg) variant of BRCA2 (P51587)
W31R (p.Trp31Arg) 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 and published literature.
W31R (p.Trp31Arg) variant details
- p.Trp31Arg
- rs80359182
- ClinGen CA026029
- ClinVar RCV000113123
- ClinVar RCV001378307
- Pathogenic
- in BC
- Missense
- AlphaMissense 0.99
- MetaLR 0.07
- MetaSVM -1.16
- SIFT 0.00
- MutPred 0.66
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- 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)