Q18K (p.Gln18Lys) variant of WDR19 (WD repeat-containing protein 19)
Q18K (p.Gln18Lys) 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.
Q18K (p.Gln18Lys) variant details
- p.Gln18Lys
- gnomAD 4-39185771-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.13
- MetaSVM -1.02
- CADD 17.10
- Population evidence available
- Structural context available
- Literature evidence available