E161K (p.Glu161Lys) variant of SCN5A (Nav1.5)
E161K (p.Glu161Lys) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiac arrhythmia; SCN5A-related disorder; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E161K (p.Glu161Lys) variant details
- p.Glu161Lys
- rs199473062
- ClinGen CA018588
- cosmic curated COSV61138
- ClinVar RCV000058710
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; SCN5A-related disorder; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.09
- CADD 33.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; SCN5A-related disorder; Cardiovascular pheno)
- EBI: Pathogenic (in BRGDA1 and PFHB1A)
- UniProt: Pathogenic (in BRGDA1 and PFHB1A)
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Scores from automatic patch clamping assay of SCN5A variants in HEK293T cells: score 40.9
- Cited in: Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients… (PMID 12106943)
- Cited in: Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium… (PMID 19251209)