D3E (p.Asp3Glu) variant of MYH7 (Myosin-7)
D3E (p.Asp3Glu) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1S; Hypertrophic cardiomyopathy 1; Congenital myopathy wi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- rs1893043424
- ClinGen CA389054238
- ClinVar RCV001303919
- ClinVar RCV002486174
- Uncertain significance
- Dilated cardiomyopathy 1S; Hypertrophic cardiomyopathy 1; Congenital myopathy wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- AlphaMissense 0.44
- MetaLR 0.68
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.30
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1S; Hypertrophic cardiomyopathy 1; Congen)
- EBI: Variant of uncertain significance (in dbSNP:rs3729993)
- UniProt: Uncertain significance (in dbSNP:rs3729993)
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)