K18E (p.Lys18Glu) variant of MYH7 (Myosin-7)
K18E (p.Lys18Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
K18E (p.Lys18Glu) variant details
- p.Lys18Glu
- rs730880827
- ClinGen CA015880
- ClinVar RCV000158721
- ClinVar RCV002516386
- Uncertain significance
- Hypertrophic cardiomyopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.62
- MetaSVM 0.04
- CADD 27.80
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available