K103E (p.Lys103Glu) variant of WDR45 (Q9Y484)
K103E (p.Lys103Glu) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K103E (p.Lys103Glu) variant details
- p.Lys103Glu
- gnomAD X-49076679-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.24
- CADD 22.80
- Most common in the HGDP:KARITIANA population (allele frequency 0.062)
- Structural context available
- Literature evidence available