L80P (p.Leu80Pro) variant of WDR45 (Q9Y484)
L80P (p.Leu80Pro) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L80P (p.Leu80Pro) variant details
- p.Leu80Pro
- gnomAD X-49076789-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 15.60
- Most common in the REMAINING population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available