D42E (p.Asp42Glu) variant of WDR19 (WD repeat-containing protein 19)
D42E (p.Asp42Glu) in WDR19 (WD repeat-containing protein 19) 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.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- gnomAD 4-39186566-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.10
- MetaSVM -0.99
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available