V38L (p.Val38Leu) variant of WDR19 (WD repeat-containing protein 19)
V38L (p.Val38Leu) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- gnomAD 4-39186552-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.03
- MetaSVM -1.19
- CADD 23.60
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available
- Literature evidence available