G186D (p.Gly186Asp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G186D (p.Gly186Asp) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiac arrhythmia; Congenital long QT syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G186D (p.Gly186Asp) variant details
- p.Gly186Asp
- rs794728568
- ClinGen CA10575751
- ClinVar RCV000234798
- ClinVar RCV000801452
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Congenital long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Congenital long QT syndrome; not provided)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- 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)