S2C (p.Ser2Cys) variant of BRIP1 (Fanconi anemia group J protein)
S2C (p.Ser2Cys) 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.
S2C (p.Ser2Cys) variant details
- p.Ser2Cys
- Ensembl rs751194347
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available