W31S (p.Trp31Ser) variant of BRCA2 (P51587)
W31S (p.Trp31Ser) 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.
W31S (p.Trp31Ser) variant details
- p.Trp31Ser
- rs397508045
- ClinGen CA387754108
- ClinVar RCV003031127
- ClinVar RCV003138442
- Pathogenic
- in BC
- Missense
- AlphaMissense 0.91
- MetaLR 0.08
- MetaSVM -1.18
- SIFT 0.00
- MutPred 0.57
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- 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)