H13L (p.His13Leu) variant of CHEK2 (O96017)
H13L (p.His13Leu) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
H13L (p.His13Leu) variant details
- p.His13Leu
- TOPMed rs1064793324
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available