E98Q (p.Glu98Gln) variant of WDR45 (Q9Y484)
E98Q (p.Glu98Gln) in WDR45 (Q9Y484) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E98Q (p.Glu98Gln) variant details
- p.Glu98Gln
- ExAC rs781998959
- gnomAD rs781998959
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.24
- AlphaMissense 0.86
- MetaLR 0.35
- MetaSVM -0.39
- CADD 25.50
- PolyPhen-2 0.91
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available