G272D (p.Gly272Asp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G272D (p.Gly272Asp) 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 not provided; Cardiovascular phenotype; Atrial fibrillation, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G272D (p.Gly272Asp) variant details
- p.Gly272Asp
- rs199472726
- ClinGen CA008316
- ClinVar RCV000046134
- ClinVar RCV000057767
- Pathogenic/Likely pathogenic
- not provided; Cardiovascular phenotype; Atrial fibrillation, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- CADD 26.20
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cardiovascular phenotype; Atrial fibrillation, fam)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical… (PMID 16414944)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)