L26R (p.Leu26Arg) variant of BRIP1 (Fanconi anemia group J protein)
L26R (p.Leu26Arg) 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 Fanconi anemia complementation group J; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L26R (p.Leu26Arg) variant details
- p.Leu26Arg
- rs1603368414
- ClinGen CA400485929
- ClinVar RCV001344944
- TOPMed rs1603368414
- Uncertain significance
- Fanconi anemia complementation group J; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Uncertain significance (Fanconi anemia complementation group J; Familial cancer of breas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)