E9K (p.Glu9Lys) variant of WDR19 (WD repeat-containing protein 19)
E9K (p.Glu9Lys) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- gnomAD 4-39185744-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.26
- MetaSVM -0.58
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available