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 0.53 / 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 0.531
- AlphaMissense 0.75
- MetaLR 0.62
- MetaSVM 0.04
- PolyPhen-2 0.07
- SIFT 0.00
- EVE 0.48
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available