P73L (p.Pro73Leu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
P73L (p.Pro73Leu) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- TOPMed rs1443164591
- gnomAD rs1443164591
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 15.00
- PolyPhen-2 0.29
- SIFT 0.09
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available