F32L (p.Phe32Leu) variant of BRCA2 (P51587)
F32L (p.Phe32Leu) 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.
F32L (p.Phe32Leu) variant details
- p.Phe32Leu
- rs397508057
- ClinGen CA026180
- cosmic curated COSV66454
- ClinVar RCV000132090
- Pathogenic
- in BC
- Missense
- AlphaMissense 0.95
- MetaLR 0.04
- MetaSVM -1.22
- SIFT 0.00
- MutPred 0.67
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- Cited in: High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. (PMID 9609997)
- Cited in: Germline brca2 sequence variants in patients with ocular melanoma. (PMID 10399947)