G20V (p.Gly20Val) variant of DES (Desmin)
G20V (p.Gly20Val) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- gnomAD 2-219418521-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.48
- CADD 23.20
- PolyPhen-2 0.33
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available