E28K (p.Glu28Lys) variant of MYL3 (Myosin light chain 3)
E28K (p.Glu28Lys) 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 not specified; Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- rs754220375
- ClinGen CA045177
- ClinVar RCV000217870
- ClinVar RCV000472426
- Uncertain significance
- not specified; Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.18
- CADD 8.01
- PolyPhen-2 0.02
- SIFT 0.93
- ClinVar: Uncertain significance (not specified; Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)