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 Cardiomyopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 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
- Cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.26
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)