E49D (p.Glu49Asp) variant of MYL3 (Myosin light chain 3)
E49D (p.Glu49Asp) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- rs1004231349
- ClinGen CA73779714
- ClinVar RCV000816475
- ClinVar RCV001805891
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.22
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)