M1I (p.Met1Ile) variant of KCNH2 (hERG)
M1I (p.Met1Ile) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2117072816
- ClinGen CA369866793
- ClinVar RCV002031801
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.46
- SIFT 0.00
- MutPred 0.94
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- 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)