M28I (p.Met28Ile) variant of SCN5A (Nav1.5)
M28I (p.Met28Ile) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
M28I (p.Met28Ile) variant details
- p.Met28Ile
- rs1284557438
- ClinGen CA352159062
- cosmic curated COSV60067
- ClinVar RCV001296119
- Uncertain significance
- Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.07
- MetaSVM -0.89
- CADD 14.30
- ClinVar: Uncertain significance (Cardiac arrhythmia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)