E45K (p.Glu45Lys) variant of KCNJ5 (P48544)
E45K (p.Glu45Lys) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- rs372447456
- ClinGen CA302085
- cosmic curated COSV57965
- ClinVar RCV000560761
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.39
- AlphaMissense 0.09
- MetaLR 0.63
- MetaSVM 0.23
- CADD 22.20
- PolyPhen-2 0.64
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- 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)