E30K (p.Glu30Lys) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E30K (p.Glu30Lys) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- rs761079937
- ClinGen CA016004
- NCI-TCGA Cosmic COSV5703
- cosmic curated COSV57030
- Uncertain significance
- Cardiovascular phenotype; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.45
- CADD 25.00
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)