G33C (p.Gly33Cys) variant of DSP (Desmoplakin)
G33C (p.Gly33Cys) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G33C (p.Gly33Cys) variant details
- p.Gly33Cys
- gnomAD 6-7542012-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.40
- MetaLR 0.41
- MetaSVM -0.10
- CADD 25.70
- PolyPhen-2 0.58
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available