D84G (p.Asp84Gly) variant of WDR45 (Q9Y484)
D84G (p.Asp84Gly) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D84G (p.Asp84Gly) variant details
- p.Asp84Gly
- gnomAD X-49076735-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.42
- CADD 28.00
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available