E52K (p.Glu52Lys) variant of MYL3 (Myosin light chain 3)
E52K (p.Glu52Lys) 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 Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- rs1355038672
- ClinGen CA352498782
- ClinVar RCV001763936
- TOPMed rs1355038672
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.33
- CADD 23.70
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available