R116G (p.Arg116Gly) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R116G (p.Arg116Gly) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar 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 0.88 / 1. The record also includes population frequency data and structural context.
R116G (p.Arg116Gly) variant details
- p.Arg116Gly
- Ensembl rs2133560251
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.98
- CADD 28.20
- ClinVar: Uncertain significance (Long QT syndrome)
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available