T100S (p.Thr100Ser) variant of WDR45 (Q9Y484)
T100S (p.Thr100Ser) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
T100S (p.Thr100Ser) variant details
- p.Thr100Ser
- gnomAD X-49076792-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 13.90
- Population evidence available
- Structural context available
- Literature evidence available