D75Y (p.Asp75Tyr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
D75Y (p.Asp75Tyr) 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 0.84 / 1. The record also includes population frequency data and structural context.
D75Y (p.Asp75Tyr) variant details
- p.Asp75Tyr
- rs375471260
- ClinGen CA380341685
- ClinVar RCV004015720
- ESP rs375471260
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available