G495R (p.Gly495Arg) variant of WDR19 (WD repeat-containing protein 19)
G495R (p.Gly495Arg) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
G495R (p.Gly495Arg) variant details
- p.Gly495Arg
- rs1215108056
- ClinGen CA356631901
- ClinVar RCV000516069
- ClinVar RCV001316218
- Pathogenic
- Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.95
- MetaSVM 1.07
- CADD 28.20
- ClinVar: Pathogenic (Senior-Loken syndrome 8; Asphyxiating thoracic dystrophy 5)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available