P33H (p.Pro33His) variant of DES (Desmin)
P33H (p.Pro33His) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P33H (p.Pro33His) variant details
- p.Pro33His
- gnomAD 2-219418560-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.35
- CADD 24.30
- PolyPhen-2 0.82
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available