S12A (p.Ser12Ala) variant of CHEK2 (O96017)
S12A (p.Ser12Ala) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S12A (p.Ser12Ala) variant details
- p.Ser12Ala
- TOPMed rs876661027
- gnomAD rs876661027
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available