E55K (p.Glu55Lys) variant of KCNJ5 (P48544)
E55K (p.Glu55Lys) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E55K (p.Glu55Lys) variant details
- p.Glu55Lys
- rs72544301
- ClinGen CA230640393
- ClinVar RCV002029540
- ClinVar RCV002389038
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.50
- MetaLR 0.72
- MetaSVM 0.24
- CADD 23.20
- PolyPhen-2 0.59
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)