P104L (p.Pro104Leu) variant of WDR45 (Q9Y484)
P104L (p.Pro104Leu) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P104L (p.Pro104Leu) variant details
- p.Pro104Leu
- gnomAD X-49076675-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.23
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available