S16C (p.Ser16Cys) variant of CHEK2 (O96017)
S16C (p.Ser16Cys) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
S16C (p.Ser16Cys) variant details
- p.Ser16Cys
- gnomAD rs1426424086
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available