E299G (p.Glu299Gly) variant of KCNJ2 (P63252)
E299G (p.Glu299Gly) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Andersen Tawil syndrome; Short QT syndrome type 3; Atrial fibrillation, familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
E299G (p.Glu299Gly) variant details
- p.Glu299Gly
- rs786205817
- ClinGen CA400862582
- ClinVar RCV000850566
- Ensembl rs786205817
- Likely pathogenic
- Andersen Tawil syndrome; Short QT syndrome type 3; Atrial fibrillation, familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Andersen Tawil syndrome; Short QT syndrome type 3; Atrial fibril)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)