W5S (p.Trp5Ser) variant of BRIP1 (Fanconi anemia group J protein)
W5S (p.Trp5Ser) 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.
W5S (p.Trp5Ser) variant details
- p.Trp5Ser
- Ensembl rs1555618738
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available