C42S (p.Cys42Ser) variant of BRIP1 (Fanconi anemia group J protein)
C42S (p.Cys42Ser) 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.
C42S (p.Cys42Ser) variant details
- p.Cys42Ser
- Ensembl rs1567877037
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available