K14Q (p.Lys14Gln) variant of MYL3 (Myosin light chain 3)
K14Q (p.Lys14Gln) 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 0.56 / 1. The record also includes published literature and structural context.
K14Q (p.Lys14Gln) variant details
- p.Lys14Gln
- rs1702011948
- ClinGen CA352499819
- ClinVar RCV001188733
- ClinVar RCV006557163
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- AlphaMissense 0.18
- MetaLR 0.70
- MetaSVM -0.35
- PolyPhen-2 0.99
- SIFT 0.03
- MutPred 0.23
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic 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)