F11V (p.Phe11Val) variant of BRCA2 (P51587)
F11V (p.Phe11Val) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and published literature.
F11V (p.Phe11Val) variant details
- p.Phe11Val
- rs1566214589
- ClinGen CA387752991
- ClinVar RCV000772547
- ClinVar RCV001856019
- Uncertain significance
- Missense
- AlphaMissense 0.70
- MetaLR 0.01
- MetaSVM -1.06
- SIFT 0.04
- MutPred 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)