S12Y (p.Ser12Tyr) variant of CHEK2 (O96017)
S12Y (p.Ser12Tyr) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S12Y (p.Ser12Tyr) variant details
- p.Ser12Tyr
- gnomAD rs1166395498
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available