T65A (p.Thr65Ala) variant of KCNH2 (hERG)
T65A (p.Thr65Ala) in KCNH2 (hERG) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LQT2. The record also includes experimental measurements and structural context.
T65A (p.Thr65Ala) variant details
- p.Thr65Ala
- TOPMed rs121912511
- Pathogenic
- in LQT2
- Missense
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 86.5