L8Q (p.Leu8Gln) variant of WDR19 (WD repeat-containing protein 19)
L8Q (p.Leu8Gln) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L8Q (p.Leu8Gln) variant details
- p.Leu8Gln
- gnomAD 4-39185742-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.08
- MetaSVM -1.02
- CADD 12.90
- Population evidence available
- Structural context available
- Literature evidence available