K43E (p.Lys43Glu) variant of MYL3 (Myosin light chain 3)
K43E (p.Lys43Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K43E (p.Lys43Glu) variant details
- p.Lys43Glu
- rs2106914291
- ClinGen CA352499469
- ClinVar RCV001524672
- Ensembl rs2106914291
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.26
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.79
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)