W31L (p.Trp31Leu) variant of BRCA2 (P51587)
W31L (p.Trp31Leu) 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.
W31L (p.Trp31Leu) variant details
- p.Trp31Leu
- rs397508045
- ClinGen CA6940322
- ClinVar RCV000240757
- ClinVar RCV000573741
- 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 2007 update of recommendations for the use of tumor markers in breast cancer. (PMID 17954709)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)