E45Q (p.Glu45Gln) variant of MYL3 (Myosin light chain 3)
E45Q (p.Glu45Gln) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E45Q (p.Glu45Gln) variant details
- p.Glu45Gln
- rs1701987196
- ClinGen CA352498901
- cosmic curated COSV10587
- ClinVar RCV001240712
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.35
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)