F17L (p.Phe17Leu) variant of BRIP1 (Fanconi anemia group J protein)
F17L (p.Phe17Leu) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast; Fanconi anemia complementation group J; Hereditary ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- rs1603368465
- ClinGen CA400485995
- ClinVar RCV000808470
- ClinVar RCV004949955
- Uncertain significance
- Familial cancer of breast; Fanconi anemia complementation group J; Hereditary ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.97
- MetaLR 0.39
- MetaSVM -0.25
- PolyPhen-2 0.96
- SIFT 0.01
- EVE 0.66
- ClinVar: Uncertain significance (Familial cancer of breast; Fanconi anemia complementation group)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)