A2G (p.Ala2Gly) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A2G (p.Ala2Gly) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- rs199473442
- ClinGen CA379115683
- ClinVar RCV000590986
- Ensembl rs199473442
- Likely pathogenic
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.87
- MetaSVM 0.63
- CADD 16.60
- ClinVar: Likely pathogenic (Long QT syndrome 1)
- EBI: Likely pathogenic (in LQT1)
- UniProt: Likely pathogenic (in LQT1)
- Population evidence available
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)