E848G (p.Glu848Gly) variant of MYH7 (Myosin-7)
E848G (p.Glu848Gly) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Primary familial hypertrophic cardiomyop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
E848G (p.Glu848Gly) variant details
- p.Glu848Gly
- rs727504311
- ClinGen CA012584
- ClinVar RCV000158548
- ClinVar RCV000461430
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Primary familial hypertrophic cardiomyop
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.54
- MetaLR 0.85
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.89
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Primary familial hypertr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)