K47E (p.Lys47Glu) variant of WDR19 (WD repeat-containing protein 19)
K47E (p.Lys47Glu) 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.
K47E (p.Lys47Glu) variant details
- p.Lys47Glu
- gnomAD 4-39186579-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.02
- MetaSVM -1.07
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available