A300G (p.Ala300Gly) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A300G (p.Ala300Gly) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A300G (p.Ala300Gly) variant details
- p.Ala300Gly
- rs1001293702
- ClinGen CA379131700
- ClinVar RCV004016470
- TOPMed rs1001293702
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.89
- MetaSVM 0.86
- CADD 25.00
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance (in LQT1)
- UniProt: Uncertain significance (in LQT1)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)