S33L (p.Ser33Leu) variant of CHEK2 (O96017)
S33L (p.Ser33Leu) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S33L (p.Ser33Leu) variant details
- p.Ser33Leu
- TOPMed rs2054331180
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available