E9V (p.Glu9Val) variant of WDR19 (WD repeat-containing protein 19)
E9V (p.Glu9Val) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E9V (p.Glu9Val) variant details
- p.Glu9Val
- gnomAD 4-39185745-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.31
- MetaSVM -0.39
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available