G23C (p.Gly23Cys) variant of DES (Desmin)
G23C (p.Gly23Cys) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G23C (p.Gly23Cys) variant details
- p.Gly23Cys
- gnomAD 2-219418529-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.37
- CADD 13.60
- PolyPhen-2 0.68
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available