A100V (p.Ala100Val) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A100V (p.Ala100Val) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A100V (p.Ala100Val) variant details
- p.Ala100Val
- TOPMed rs2095899790
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.18
- Population evidence available
- Structural context available