E36K (p.Glu36Lys) variant of MYL3 (Myosin light chain 3)
E36K (p.Glu36Lys) 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; Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- rs749941468
- ClinGen CA042180
- cosmic curated COSV52767
- ClinVar RCV001191856
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.11
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)