F279I (p.Phe279Ile) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
F279I (p.Phe279Ile) 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 Short QT syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
F279I (p.Phe279Ile) variant details
- p.Phe279Ile
- rs1057519584
- ClinGen CA16044372
- ClinVar RCV000417068
- Ensembl rs1057519584
- Pathogenic
- Short QT syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.98
- MetaSVM 0.99
- CADD 24.30
- ClinVar: Pathogenic (Short QT syndrome type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome. (PMID 26168993)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)