E258K (p.Glu258Lys) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E258K (p.Glu258Lys) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 4; Left ventricular noncom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E258K (p.Glu258Lys) variant details
- p.Glu258Lys
- rs397516074
- ClinGen CA015823
- NCI-TCGA Cosmic COSV9992
- cosmic curated COSV99920
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 4; Left ventricular noncom
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.16
- MetaLR 0.28
- MetaSVM -0.49
- CADD 33.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Hypertrophic cardiomyopathy 4; Left ve)
- EBI: Pathogenic (in CMH4)
- UniProt: Pathogenic (in CMH4)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular… (PMID 12707239)
- Cited in: Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in… (PMID 12951062)