K18E (p.Lys18Glu) variant of MYL3 (Myosin light chain 3)
K18E (p.Lys18Glu) 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 0.48 / 1. The record also includes published literature and structural context.
K18E (p.Lys18Glu) variant details
- p.Lys18Glu
- rs1702011793
- ClinGen CA352499764
- ClinVar RCV001176176
- Ensembl rs1702011793
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- AlphaMissense 0.21
- MetaLR 0.43
- MetaSVM -0.60
- PolyPhen-2 0.93
- SIFT 1.00
- MutPred 0.32
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)