L8R (p.Leu8Arg) variant of WDR19 (WD repeat-containing protein 19)
L8R (p.Leu8Arg) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- gnomAD 4-39185742-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.08
- MetaSVM -1.02
- CADD 13.60
- Population evidence available
- Structural context available
- Literature evidence available