A300E (p.Ala300Glu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A300E (p.Ala300Glu) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A300E (p.Ala300Glu) variant details
- p.Ala300Glu
- rs1001293702
- ClinGen CA16613563
- ClinVar RCV000470657
- ClinVar RCV001558264
- Conflicting interpretations
- not provided; not specified; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.92
- MetaSVM 0.97
- CADD 25.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Long QT syndrome)
- EBI: Likely pathogenic (in LQT1)
- UniProt: Likely pathogenic (in LQT1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Jervell and Lange-Nielsen Syndrome. (PMID 20301579)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)