S52C (p.Ser52Cys) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S52C (p.Ser52Cys) 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 not provided; Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
S52C (p.Ser52Cys) variant details
- p.Ser52Cys
- rs2095900771
- ClinGen CA380341822
- ClinVar RCV001044193
- ClinVar RCV001772241
- Uncertain significance
- not provided; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- ESM-1b 1.00
- AlphaMissense 0.43
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Hypertrophic cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available