E29D (p.Glu29Asp) variant of DSP (Desmoplakin)
E29D (p.Glu29Asp) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E29D (p.Glu29Asp) variant details
- p.Glu29Asp
- gnomAD 6-7542002-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.19
- MetaLR 0.28
- MetaSVM -0.54
- CADD 19.80
- PolyPhen-2 0.90
- SIFT 0.56
- Population evidence available
- Structural context available
- Literature evidence available