S16I (p.Ser16Ile) variant of CHEK2 (O96017)
S16I (p.Ser16Ile) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S16I (p.Ser16Ile) variant details
- p.Ser16Ile
- Ensembl rs1060502705
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available