T100P (p.Thr100Pro) variant of WDR45 (Q9Y484)
T100P (p.Thr100Pro) in WDR45 (Q9Y484) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
T100P (p.Thr100Pro) variant details
- p.Thr100Pro
- gnomAD X-49076792-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.686
- CADD 13.00
- Population evidence available
- Structural context available
- Literature evidence available