V96V (p.Val96Val) variant of WDR45 (Q9Y484)
V96V (p.Val96Val) in WDR45 (Q9Y484) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V96V (p.Val96Val) variant details
- p.Val96Val
- gnomAD X-49076698-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 12.30
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available