S32* (p.Ser32Ter) variant of DES (Desmin)
S32* (p.Ser32Ter) in DES (Desmin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S32* (p.Ser32Ter) variant details
- p.Ser32Ter
- gnomAD 2-219418557-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available