V79V (p.Val79Val) variant of WDR45 (Q9Y484)
V79V (p.Val79Val) in WDR45 (Q9Y484) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V79V (p.Val79Val) variant details
- p.Val79Val
- gnomAD X-49076749-C-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 11.80
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available