G33D (p.Gly33Asp) variant of DSP (Desmoplakin)
G33D (p.Gly33Asp) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G33D (p.Gly33Asp) variant details
- p.Gly33Asp
- gnomAD 6-7542013-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.34
- MetaLR 0.37
- MetaSVM -0.39
- CADD 22.00
- PolyPhen-2 0.07
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available