Y5H (p.Tyr5His) variant of DES (Desmin)
Y5H (p.Tyr5His) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Y5H (p.Tyr5His) variant details
- p.Tyr5His
- gnomAD 2-219418475-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.32
- CADD 24.90
- PolyPhen-2 0.91
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available