Q9H (p.Gln9His) variant of DES (Desmin)
Q9H (p.Gln9His) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q9H (p.Gln9His) variant details
- p.Gln9His
- gnomAD 2-219418489-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.33
- CADD 23.70
- PolyPhen-2 0.88
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available