V38M (p.Val38Met) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V38M (p.Val38Met) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V38M (p.Val38Met) variant details
- p.Val38Met
- rs1299024877
- ClinGen CA380341906
- ClinVar RCV001319830
- ClinVar RCV001525303
- Uncertain significance
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.06
- ESM-1b 0.39
- AlphaMissense 0.25
- CADD 16.30
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)