Q3K (p.Gln3Lys) variant of DES (Desmin)
Q3K (p.Gln3Lys) 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.
Q3K (p.Gln3Lys) variant details
- p.Gln3Lys
- gnomAD 2-219418469-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.21
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.90
- Population evidence available
- Structural context available
- Literature evidence available