E98K (p.Glu98Lys) variant of MYH6 (Myosin-6)
E98K (p.Glu98Lys) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Atrial septal defect 3; Dilated cardiomyopathy 1EE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E98K (p.Glu98Lys) variant details
- p.Glu98Lys
- rs140596256
- ClinGen CA134302
- cosmic curated COSV62450
- ClinVar RCV000037465
- Conflicting interpretations
- Cardiovascular phenotype; Atrial septal defect 3; Dilated cardiomyopathy 1EE
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.92
- CADD 26.50
- PolyPhen-2 0.75
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Atrial septal defect 3; Dilated cardio)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)