p.Leu30 Pro36del variant of DES (Desmin)
p.Leu30 Pro36del in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu30 Pro36del variant details
- gnomAD 2-219418545-CCCCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 22.10
- Population evidence available
- Structural context available
- Literature evidence available