I11D (p.Ile11Asp) variant of DSP (Desmoplakin)
I11D (p.Ile11Asp) in DSP (Desmoplakin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
I11D (p.Ile11Asp) variant details
- p.Ile11Asp
- rs2113628539
- gnomAD 6-7541944-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.807
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available