W31G (p.Trp31Gly) variant of BRCA2 (P51587)
W31G (p.Trp31Gly) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in BC. The record also includes variant effect predictions and published literature.
W31G (p.Trp31Gly) variant details
- p.Trp31Gly
- rs80359182
- ClinGen CA387754107
- ClinVar RCV000568041
- ClinVar RCV000759687
- Likely pathogenic
- in BC
- Missense
- AlphaMissense 0.99
- MetaLR 0.07
- MetaSVM -1.16
- SIFT 0.00
- MutPred 0.66
- EBI: Likely pathogenic (in BC)
- UniProt: Likely pathogenic (in BC)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)