A34S (p.Ala34Ser) variant of WDR19 (WD repeat-containing protein 19)
A34S (p.Ala34Ser) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A34S (p.Ala34Ser) variant details
- p.Ala34Ser
- gnomAD 4-39186540-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.01
- MetaSVM -0.92
- CADD 18.50
- Population evidence available
- Structural context available
- Literature evidence available