L8V (p.Leu8Val) variant of WDR19 (WD repeat-containing protein 19)
L8V (p.Leu8Val) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- gnomAD 4-39185741-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.09
- MetaSVM -1.01
- CADD 3.22
- Population evidence available
- Structural context available
- Literature evidence available