R111L (p.Arg111Leu) variant of WDR45 (Q9Y484)
R111L (p.Arg111Leu) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R111L (p.Arg111Leu) variant details
- p.Arg111Leu
- gnomAD X-49076654-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.72
- CADD 24.20
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available