G19V (p.Gly19Val) variant of DES (Desmin)
G19V (p.Gly19Val) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- gnomAD 2-219418518-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.90
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available