T220I (p.Thr220Ile) variant of SCN5A (Nav1.5)
T220I (p.Thr220Ile) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiac arrhythmia; SCN5A-related disorder; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T220I (p.Thr220Ile) variant details
- p.Thr220Ile
- rs45620037
- ClinGen CA019690
- ClinVar RCV000009998
- ClinVar RCV000058832
- Conflicting interpretations
- Cardiac arrhythmia; SCN5A-related disorder; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.30
- ClinVar: Conflicting classifications of pathogenicity (Cardiac arrhythmia; SCN5A-related disorder; Cardiovascular pheno)
- EBI: Pathogenic (in SSS1 and BRGDA1)
- UniProt: Pathogenic (in SSS1 and BRGDA1)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Scores from automatic patch clamping assay of SCN5A variants in HEK293T cells: score 79.2
- Cited in: Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). (PMID 14523039)
- Cited in: Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. (PMID 15671429)