L33F (p.Leu33Phe) variant of BRIP1 (Fanconi anemia group J protein)
L33F (p.Leu33Phe) 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; Fanconi anemia complementation group J. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L33F (p.Leu33Phe) variant details
- p.Leu33Phe
- rs772319724
- ClinGen CA8690994
- ClinVar RCV000562728
- ClinVar RCV001054310
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.03
- AlphaMissense 0.47
- MetaLR 0.13
- MetaSVM -0.94
- CADD 21.80
- PolyPhen-2 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)