A20D (p.Ala20Asp) variant of DSP (Desmoplakin)
A20D (p.Ala20Asp) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- gnomAD 6-7541974-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.27
- MetaLR 0.15
- MetaSVM -0.66
- CADD 23.80
- PolyPhen-2 0.15
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available