Q25E (p.Gln25Glu) variant of BRIP1 (Fanconi anemia group J protein)
Q25E (p.Gln25Glu) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q25E (p.Gln25Glu) variant details
- p.Gln25Glu
- Ensembl rs2078971612
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available