E43K (p.Glu43Lys) variant of KCNE1 (P15382)
E43K (p.Glu43Lys) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Arrhythmogenic right ventricular cardiom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- rs755781709
- ClinGen CA16616501
- ClinVar RCV000477286
- ClinVar RCV000852544
- Uncertain significance
- Cardiovascular phenotype; not provided; Arrhythmogenic right ventricular cardiom
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.43
- CADD 24.50
- PolyPhen-2 0.64
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Arrhythmogenic right ven)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Trafficking scores for KCNE1 in the presence of KCNQ1: score 1.01
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)