Q46L (p.Gln46Leu) variant of WDR19 (WD repeat-containing protein 19)
Q46L (p.Gln46Leu) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q46L (p.Gln46Leu) variant details
- p.Gln46Leu
- gnomAD 4-39186577-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.02
- MetaSVM -0.98
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available