M138I (p.Met138Ile) variant of SCN5A (Nav1.5)
M138I (p.Met138Ile) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
M138I (p.Met138Ile) variant details
- p.Met138Ile
- rs199473060
- UniProt VAR 055161
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.90
- MetaSVM 0.87
- CADD 24.10
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in ATFB10)
- UniProt: Pathogenic (in ATFB10)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. (PMID 18378609)
- Cited in: Cardiac sodium channel mutation in atrial fibrillation. (PMID 18088563)