A30E (p.Ala30Glu) variant of WDR19 (WD repeat-containing protein 19)
A30E (p.Ala30Glu) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A30E (p.Ala30Glu) variant details
- p.Ala30Glu
- gnomAD 4-39185808-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.11
- MetaSVM -0.87
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available