D83D (p.Asp83Asp) variant of WDR45 (Q9Y484)
D83D (p.Asp83Asp) in WDR45 (Q9Y484) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
D83D (p.Asp83Asp) variant details
- p.Asp83Asp
- rs782706648
- gnomAD X-49076737-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.44
- Most common in the South Asian population (allele frequency 0.00036)
- Structural context available
- Literature evidence available