V48M (p.Val48Met) variant of WDR45 (Q9Y484)
V48M (p.Val48Met) in WDR45 (Q9Y484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V48M (p.Val48Met) variant details
- p.Val48Met
- ExAC rs782518681
- gnomAD rs782518681
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.14
- CADD 23.40
- PolyPhen-2 0.07
- SIFT 0.22
- Most common in the Latino/Admixed American population (allele frequency 3e-05)
- Structural context available