E5D (p.Glu5Asp) variant of MYH7 (Myosin-7)
E5D (p.Glu5Asp) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E5D (p.Glu5Asp) variant details
- p.Glu5Asp
- rs1223890089
- ClinGen CA389054221
- ClinVar RCV001062363
- gnomAD rs1223890089
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.27
- MetaSVM -0.81
- CADD 20.90
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available