D83E (p.Asp83Glu) variant of WDR45 (Q9Y484)
D83E (p.Asp83Glu) in WDR45 (Q9Y484) 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.
D83E (p.Asp83Glu) variant details
- p.Asp83Glu
- gnomAD X-49076737-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.56
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available