K15E (p.Lys15Glu) variant of KCNE1 (P15382)
K15E (p.Lys15Glu) in KCNE1 (P15382) 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 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K15E (p.Lys15Glu) variant details
- p.Lys15Glu
- rs2516765058
- ClinGen CA410198595
- ClinVar RCV003072639
- ClinVar RCV004779428
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 10.70
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.56
- 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)