A23T (p.Ala23Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A23T (p.Ala23Thr) 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; Cardiovascular phenotype; Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- gnomAD rs1456296682
- Uncertain significance
- Long QT syndrome; Cardiovascular phenotype; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.84
- MetaSVM 0.45
- CADD 14.40
- ClinVar: Uncertain significance (Long QT syndrome; Cardiovascular phenotype; Cardiac arrhythmia)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available