L33H (p.Leu33His) variant of BRIP1 (Fanconi anemia group J protein)
L33H (p.Leu33His) 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 record also includes structural context.
L33H (p.Leu33His) variant details
- p.Leu33His
- Ensembl rs2145853042
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available