E29G (p.Glu29Gly) variant of DSP (Desmoplakin)
E29G (p.Glu29Gly) 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.
E29G (p.Glu29Gly) variant details
- p.Glu29Gly
- gnomAD 6-7542001-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.30
- MetaLR 0.32
- MetaSVM -0.32
- CADD 25.30
- PolyPhen-2 0.93
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available