Q46K (p.Gln46Lys) variant of WDR19 (WD repeat-containing protein 19)
Q46K (p.Gln46Lys) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q46K (p.Gln46Lys) variant details
- p.Gln46Lys
- gnomAD 4-39186576-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -0.97
- CADD 18.20
- Population evidence available
- Structural context available
- Literature evidence available