G269D (p.Gly269Asp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G269D (p.Gly269Asp) 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 Congenital long QT syndrome; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G269D (p.Gly269Asp) variant details
- p.Gly269Asp
- rs120074194
- ClinGen CA008292
- ClinVar RCV000003295
- ClinVar RCV000046133
- Pathogenic/Likely pathogenic
- Congenital long QT syndrome; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.92
- MetaSVM 1.05
- CADD 27.70
- ClinVar: Pathogenic/Likely pathogenic (Congenital long QT syndrome; Cardiovascular phenotype; not provi)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID 10973849)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)