G30C (p.Gly30Cys) variant of CHEK2 (O96017)
G30C (p.Gly30Cys) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
G30C (p.Gly30Cys) variant details
- p.Gly30Cys
- Ensembl rs1555932749
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available