V68A (p.Val68Ala) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V68A (p.Val68Ala) 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 Cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
V68A (p.Val68Ala) variant details
- p.Val68Ala
- rs2095900715
- ClinGen CA380341722
- ClinVar RCV001186076
- ClinVar RCV004033358
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- ESM-1b 1.00
- AlphaMissense 0.88
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)