K18Q (p.Lys18Gln) variant of MYH7 (Myosin-7)
K18Q (p.Lys18Gln) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
K18Q (p.Lys18Gln) variant details
- p.Lys18Gln
- rs730880827
- ClinGen CA389054093
- ClinVar RCV004013045
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.62
- MetaSVM 0.04
- CADD 27.80
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)