G45S (p.Gly45Ser) variant of WDR19 (WD repeat-containing protein 19)
G45S (p.Gly45Ser) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G45S (p.Gly45Ser) variant details
- p.Gly45Ser
- TOPMed rs1400132418
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.51
- ESM-1b 0.67
- AlphaMissense 0.42
- MetaLR 0.09
- MetaSVM -0.98
- CADD 31.00
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available