A30V (p.Ala30Val) variant of WDR19 (WD repeat-containing protein 19)
A30V (p.Ala30Val) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD 4-39185808-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.22
- MetaLR 0.06
- MetaSVM -1.17
- CADD 26.80
- Population evidence available
- Structural context available
- Literature evidence available