T59A (p.Thr59Ala) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
T59A (p.Thr59Ala) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypertrophic cardiomyopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
T59A (p.Thr59Ala) variant details
- p.Thr59Ala
- rs121909375
- ClinGen CA011043
- ClinVar RCV000009145
- UniProt VAR 029391
- Pathogenic
- Hypertrophic cardiomyopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.10
- ClinVar: Pathogenic (Hypertrophic cardiomyopathy 4)
- EBI: Pathogenic (in CMH4)
- UniProt: Pathogenic (in CMH4)
- Structural context available
- Cited in: Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. (PMID 11815426)
- Cited in: Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding… (PMID 11499718)