E62Q (p.Glu62Gln) variant of MYH7 (Myosin-7)
E62Q (p.Glu62Gln) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E62Q (p.Glu62Gln) variant details
- p.Glu62Gln
- rs727504416
- ClinGen CA389053643
- ClinVar RCV001524691
- ClinVar RCV005635170
- Uncertain significance
- not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.38
- MetaSVM -0.37
- CADD 21.40
- ClinVar: Uncertain significance (not provided; 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)