S28A (p.Ser28Ala) variant of CHEK2 (O96017)
S28A (p.Ser28Ala) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S28A (p.Ser28Ala) variant details
- p.Ser28Ala
- Ensembl rs2146153040
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available