E1801K (p.Glu1801Lys) variant of MYH7 (Myosin-7)
E1801K (p.Glu1801Lys) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
E1801K (p.Glu1801Lys) variant details
- p.Glu1801Lys
- rs397516248
- ClinGen CA016087
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV000132759
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.95
- MetaLR 0.86
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Laing Distal Myopathy. (PMID 20301606)
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)