L43F (p.Leu43Phe) variant of BRIP1 (Fanconi anemia group J protein)
L43F (p.Leu43Phe) 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 Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
L43F (p.Leu43Phe) variant details
- p.Leu43Phe
- rs2145852056
- ClinGen CA400485806
- ClinVar RCV001892581
- ClinVar RCV004946820
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- AlphaMissense 0.87
- MetaLR 0.49
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)