Q18L (p.Gln18Leu) variant of WDR19 (WD repeat-containing protein 19)
Q18L (p.Gln18Leu) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q18L (p.Gln18Leu) variant details
- p.Gln18Leu
- gnomAD 4-39185772-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.11
- ESM-1b 0.19
- AlphaMissense 0.09
- MetaLR 0.09
- MetaSVM -1.07
- CADD 14.80
- Population evidence available
- Structural context available
- Literature evidence available