P18H (p.Pro18His) variant of BRIP1 (Fanconi anemia group J protein)
P18H (p.Pro18His) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P18H (p.Pro18His) variant details
- p.Pro18His
- gnomAD rs1415589484
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available