L13V (p.Leu13Val) variant of WDR19 (WD repeat-containing protein 19)
L13V (p.Leu13Val) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- gnomAD 4-39185756-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.15
- MetaSVM -0.91
- CADD 17.40
- Population evidence available
- Structural context available
- Literature evidence available