V71M (p.Val71Met) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
V71M (p.Val71Met) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V71M (p.Val71Met) variant details
- p.Val71Met
- Ensembl rs2095900693
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.75
- CADD 21.80
- PolyPhen-2 0.74
- SIFT 0.00
- Population evidence available
- Structural context available