G34D (p.Gly34Asp) variant of DSP (Desmoplakin)
G34D (p.Gly34Asp) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- gnomAD 6-7542016-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.27
- MetaLR 0.14
- MetaSVM -0.93
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available