p.Phe24 Gly27del variant of DES (Desmin)
p.Phe24 Gly27del in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
p.Phe24 Gly27del variant details
- gnomAD 2-219418528-GGGCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.224
- CADD 20.20
- Population evidence available
- Structural context available
- Literature evidence available