A38E (p.Ala38Glu) variant of DES (Desmin)
A38E (p.Ala38Glu) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A38E (p.Ala38Glu) variant details
- p.Ala38Glu
- ExAC rs779049308
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.45
- CADD 21.10
- PolyPhen-2 0.14
- SIFT 0.16
- Population evidence available
- Structural context available