R116H (p.Arg116His) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R116H (p.Arg116His) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; Long QT syndrome; Jervell and Lange-Nielsen syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
R116H (p.Arg116His) variant details
- p.Arg116His
- rs727504506
- ClinGen CA006846
- ClinVar RCV000155645
- Ensembl rs727504506
- Uncertain significance
- Cardiac arrhythmia; Long QT syndrome; Jervell and Lange-Nielsen syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- ESM-1b 1.00
- AlphaMissense 0.66
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available