E56G (p.Glu56Gly) variant of MYL3 (Myosin light chain 3)
E56G (p.Glu56Gly) in MYL3 (Myosin light chain 3) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
E56G (p.Glu56Gly) variant details
- p.Glu56Gly
- rs199474702
- ClinGen CA013566
- ClinVar RCV000024467
- UniProt VAR 019842
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- AlphaMissense 0.91
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in CMH8)
- UniProt: Pathogenic (in CMH8)
- Structural context available
- Cited in: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular… (PMID 12707239)
- Cited in: Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive… (PMID 12021217)