G269S (p.Gly269Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G269S (p.Gly269Ser) 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 in the context of Cardiovascular phenotype; Cardiac arrhythmia; Atrial fibrillation, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G269S (p.Gly269Ser) variant details
- p.Gly269Ser
- rs120074193
- ClinGen CA008278
- ClinVar RCV000003294
- ClinVar RCV000057765
- Pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; Atrial fibrillation, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.94
- MetaSVM 1.12
- CADD 31.00
- ClinVar: Pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; Atrial fibrillatio)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Mutation in KCNQ1 that has both recessive and dominant characteristics. (PMID 12205113)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)