E32K (p.Glu32Lys) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
E32K (p.Glu32Lys) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- rs730880575
- ClinGen CA016177
- ClinVar RCV000223809
- ClinVar RCV000473946
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.39
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)