G88S (p.Gly88Ser) variant of WDR45 (Q9Y484)
G88S (p.Gly88Ser) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G88S (p.Gly88Ser) variant details
- p.Gly88Ser
- gnomAD X-49076724-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.04
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available