E98K (p.Glu98Lys) variant of MYH7 (Myosin-7)
E98K (p.Glu98Lys) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myosin storage myopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
E98K (p.Glu98Lys) variant details
- p.Glu98Lys
- rs1440846436
- ClinGen CA389053206
- ClinVar RCV001341891
- ClinVar RCV004820878
- Uncertain significance
- Myosin storage myopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 0.93
- MetaLR 0.84
- MetaSVM 0.88
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.90
- ClinVar: Uncertain significance (Myosin storage myopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available