C3* (p.Cys3Ter) variant of DSP (Desmoplakin)
C3* (p.Cys3Ter) in DSP (Desmoplakin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
C3* (p.Cys3Ter) variant details
- p.Cys3Ter
- gnomAD 6-7541924-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available