I17V (p.Ile17Val) variant of WDR19 (WD repeat-containing protein 19)
I17V (p.Ile17Val) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I17V (p.Ile17Val) variant details
- p.Ile17Val
- gnomAD 4-39185768-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.00
- CADD 12.20
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available