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 available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes experimental measurements and structural context.
T65A (p.Thr65Ala) variant details
- p.Thr65Ala
- TOPMed rs121912511
- Pathogenic
- in LQT2
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- ESM-1b 1.00
- AlphaMissense 0.13
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 86.5