F15L (p.Phe15Leu) variant of BRCA2 (P51587)
F15L (p.Phe15Leu) 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, population frequency data, and published literature.
F15L (p.Phe15Leu) variant details
- p.Phe15Leu
- rs1064793592
- NCI-TCGA Cosmic COSV1005
- Ensembl rs2138698399
- ClinGen CA16619633
- Uncertain significance
- Missense
- REVEL 0.19
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)