E45Q (p.Glu45Gln) variant of KCNJ5 (P48544)
E45Q (p.Glu45Gln) in KCNJ5 (P48544) 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 0.49 / 1. The record also includes published literature and structural context.
E45Q (p.Glu45Gln) variant details
- p.Glu45Gln
- rs372447456
- ClinGen CA383246044
- ClinVar RCV001308888
- ESP rs372447456
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- AlphaMissense 0.09
- MetaLR 0.63
- MetaSVM 0.23
- PolyPhen-2 0.64
- SIFT 0.20
- EVE 0.12
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)