E62K (p.Glu62Lys) variant of MYH7 (Myosin-7)
E62K (p.Glu62Lys) 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 specified; Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E62K (p.Glu62Lys) variant details
- p.Glu62Lys
- rs727504416
- ClinGen CA011346
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV000154607
- Uncertain significance
- not specified; Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.26
- MetaSVM -0.83
- CADD 24.30
- ClinVar: Uncertain significance (not specified; Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)