L80F (p.Leu80Phe) variant of WDR45 (Q9Y484)
L80F (p.Leu80Phe) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L80F (p.Leu80Phe) variant details
- p.Leu80Phe
- rs2065040620
- gnomAD X-49076784-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 14.70
- Most common in the East Asian population (allele frequency 0.00014)
- Structural context available
- Literature evidence available