G45D (p.Gly45Asp) variant of WDR19 (WD repeat-containing protein 19)
G45D (p.Gly45Asp) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G45D (p.Gly45Asp) variant details
- p.Gly45Asp
- gnomAD 4-39186574-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.08
- MetaSVM -1.08
- CADD 26.50
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available
- Literature evidence available