R86L (p.Arg86Leu) variant of WDR45 (Q9Y484)
R86L (p.Arg86Leu) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R86L (p.Arg86Leu) variant details
- p.Arg86Leu
- gnomAD X-49076729-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.23
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available