L266P (p.Leu266Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
L266P (p.Leu266Pro) 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 Cardiac arrhythmia; Cardiovascular phenotype; Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L266P (p.Leu266Pro) variant details
- p.Leu266Pro
- rs199473460
- ClinGen CA008262
- ClinVar RCV000046131
- ClinVar RCV000057763
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Cardiovascular phenotype; Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- CADD 28.60
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Cardiovascular phenotype; Long QT syndrome 1)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- 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)