E16Q (p.Glu16Gln) variant of KCNJ2 (P63252)
E16Q (p.Glu16Gln) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Short QT syndrome type 3; Andersen Tawil syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- rs1203915572
- ClinGen CA400859737
- ClinVar RCV002335308
- ClinVar RCV005213682
- Uncertain significance
- Cardiovascular phenotype; Short QT syndrome type 3; Andersen Tawil syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.24
- MetaLR 0.35
- MetaSVM -0.52
- CADD 26.70
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Short QT syndrome type 3; Andersen Taw)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)