I42T (p.Ile42Thr) variant of KCNH2 (hERG)
I42T (p.Ile42Thr) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes experimental measurements, published literature, and structural context.
I42T (p.Ile42Thr) variant details
- p.Ile42Thr
- rs199473488
- ClinGen CA004336
- ClinVar RCV000181925
- ClinVar RCV003647756
- Conflicting interpretations
- not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- CADD 32.00
- PolyPhen-2 0.94
- ClinVar: Conflicting classifications of pathogenicity (not provided; Long QT syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)