I17K (p.Ile17Lys) variant of WDR19 (WD repeat-containing protein 19)
I17K (p.Ile17Lys) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I17K (p.Ile17Lys) variant details
- p.Ile17Lys
- gnomAD 4-39185769-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.36
- ESM-1b 0.21
- AlphaMissense 0.61
- MetaLR 0.18
- MetaSVM -0.79
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available