E161K (p.Glu161Lys) variant of SCN5A (Q14524)
E161K (p.Glu161Lys) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Cardiac arrhythmia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
E161K (p.Glu161Lys) variant details
- p.Glu161Lys
- rs199473062
- ClinGen CA018595
- ClinVar RCV000058711
- UniProt VAR 026344
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- REVEL 0.96
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.09
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; not provided)
- 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
- 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)