K73R (p.Lys73Arg) variant of WDR45 (Q9Y484)
K73R (p.Lys73Arg) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K73R (p.Lys73Arg) variant details
- p.Lys73Arg
- gnomAD rs1222067322
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.09
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available