S86C (p.Ser86Cys) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S86C (p.Ser86Cys) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S86C (p.Ser86Cys) variant details
- p.Ser86Cys
- ExAC rs772057451
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.45
- ESM-1b 0.38
- AlphaMissense 0.34
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available