M138I (p.Met138Ile) variant of SCN5A (Q14524)
M138I (p.Met138Ile) in SCN5A (Q14524) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
M138I (p.Met138Ile) variant details
- p.Met138Ile
- rs199473060
- ClinGen CA017919
- ClinVar RCV000148866
- ClinVar RCV003764737
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.87
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.21
- 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: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)