C66W (p.Cys66Trp) variant of KCNH2 (hERG)
C66W (p.Cys66Trp) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Long QT syndrome. The record also includes experimental measurements and structural context.
C66W (p.Cys66Trp) variant details
- p.Cys66Trp
- NCI-TCGA TCGA novel
- Uncertain significance
- Long QT syndrome
- Missense
- ClinVar: Uncertain significance (Long QT syndrome)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0