R43L (p.Arg43Leu) variant of WDR19 (WD repeat-containing protein 19)
R43L (p.Arg43Leu) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- ExAC rs770312522
- gnomAD rs770312522
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.43
- MetaSVM -0.05
- CADD 28.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available