A74D (p.Ala74Asp) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A74D (p.Ala74Asp) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A74D (p.Ala74Asp) variant details
- p.Ala74Asp
- TOPMed rs1215945374
- gnomAD rs1215945374
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.07
- ESM-1b 0.16
- AlphaMissense 0.31
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available