D91H (p.Asp91His) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
D91H (p.Asp91His) 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 Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
D91H (p.Asp91His) variant details
- p.Asp91His
- rs778851720
- ClinGen CA380341492
- ClinVar RCV004007982
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- ESM-1b 0.00
- AlphaMissense 0.53
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available