P18R (p.Pro18Arg) variant of BRIP1 (Fanconi anemia group J protein)
P18R (p.Pro18Arg) 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.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- gnomAD rs1415589484
- 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