L80R (p.Leu80Arg) variant of WDR45 (Q9Y484)
L80R (p.Leu80Arg) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L80R (p.Leu80Arg) variant details
- p.Leu80Arg
- gnomAD X-49076783-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 17.80
- Most common in the Non-Finnish European population (allele frequency 2.6e-06)
- Structural context available
- Literature evidence available