S86T (p.Ser86Thr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S86T (p.Ser86Thr) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S86T (p.Ser86Thr) variant details
- p.Ser86Thr
- gnomAD rs1463632321
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available