G39C (p.Gly39Cys) variant of DES (Desmin)
G39C (p.Gly39Cys) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G39C (p.Gly39Cys) variant details
- p.Gly39Cys
- gnomAD 2-219418577-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.45
- CADD 23.80
- PolyPhen-2 0.64
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available