E45K (p.Glu45Lys) variant of MYH7 (Myosin-7)
E45K (p.Glu45Lys) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- rs2502322469
- ClinGen CA389053795
- ClinVar RCV003748619
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.82
- MetaLR 0.68
- MetaSVM 0.38
- CADD 27.10
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available