G88E (p.Gly88Glu) variant of WDR45 (Q9Y484)
G88E (p.Gly88Glu) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G88E (p.Gly88Glu) variant details
- p.Gly88Glu
- rs1557084344
- gnomAD X-49076804-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 17.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-06)
- Structural context available
- Literature evidence available