G27V (p.Gly27Val) variant of DES (Desmin)
G27V (p.Gly27Val) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- gnomAD 2-219418542-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.33
- CADD 22.20
- PolyPhen-2 0.07
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available