E14V (p.Glu14Val) variant of KCNJ5 (P48544)
E14V (p.Glu14Val) 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 0.57 / 1. The record also includes published literature and structural context.
E14V (p.Glu14Val) variant details
- p.Glu14Val
- rs1555144849
- ClinGen CA383245374
- ClinVar RCV000537051
- Ensembl rs1555144849
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- AlphaMissense 0.18
- MetaLR 0.75
- MetaSVM -0.24
- PolyPhen-2 0.78
- SIFT 0.00
- MutPred 0.39
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)