T74R (p.Thr74Arg) variant of KCNH2 (hERG)
T74R (p.Thr74Arg) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Long QT syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes experimental measurements, published literature, and structural context.
T74R (p.Thr74Arg) variant details
- p.Thr74Arg
- rs1389503709
- ClinGen CA835213821
- ClinVar RCV001382272
- ClinVar RCV001509332
- Conflicting interpretations
- Long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Conflicting classifications of pathogenicity (Long QT syndrome; not provided)
- 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: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)