M28I (p.Met28Ile) variant of SCN5A (Q14524)
M28I (p.Met28Ile) in SCN5A (Q14524) 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 0.32 / 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 0.318
- REVEL 0.18
- CADD 6.43
- PolyPhen-2 0.00
- SIFT 1.00
- 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)