P9del (p.Pro9del) variant of DSP (Desmoplakin)
P9del (p.Pro9del) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P9del (p.Pro9del) variant details
- rs2113628520
- gnomAD 6-7541939-CCCG-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 21.10
- Population evidence available
- Structural context available
- Literature evidence available