A83T (p.Ala83Thr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A83T (p.Ala83Thr) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A83T (p.Ala83Thr) variant details
- p.Ala83Thr
- gnomAD rs1186618936
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.58
- ESM-1b 0.26
- AlphaMissense 0.21
- CADD 25.90
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available