S28C (p.Ser28Cys) variant of CHEK2 (O96017)
S28C (p.Ser28Cys) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S28C (p.Ser28Cys) variant details
- p.Ser28Cys
- Ensembl rs2146153004
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available