W21R (p.Trp21Arg) variant of WDR19 (WD repeat-containing protein 19)
W21R (p.Trp21Arg) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from ClinVar 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 0.60 / 1. The record also includes population frequency data and structural context.
W21R (p.Trp21Arg) variant details
- p.Trp21Arg
- ExAC rs747406077
- gnomAD rs747406077
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.08
- MetaSVM -0.97
- CADD 27.80
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available