R43S (p.Arg43Ser) variant of WDR19 (WD repeat-containing protein 19)
R43S (p.Arg43Ser) in WDR19 (WD repeat-containing protein 19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R43S (p.Arg43Ser) variant details
- p.Arg43Ser
- gnomAD 4-39186567-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.35
- MetaSVM -0.41
- CADD 30.00
- Population evidence available
- Structural context available
- Literature evidence available