R3L (p.Arg3Leu) variant of WDR19 (WD repeat-containing protein 19)
R3L (p.Arg3Leu) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes structural context.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- TOPMed rs922584346
- gnomAD rs922584346
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available