T74C (p.Thr74Cys) variant of KCNH2 (hERG)
T74C (p.Thr74Cys) 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 0.98 / 1. The record also includes experimental measurements, published literature, and structural context.
T74C (p.Thr74Cys) variant details
- p.Thr74Cys
- rs2117062748
- ClinGen CA2573141816
- ClinVar RCV001956514
- ClinVar RCV005585030
- Pathogenic
- in LQT2
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- ESM-1b 1.00
- AlphaMissense 0.96
- 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 0
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)