G294R (p.Gly294Arg) variant of WDR19 (WD repeat-containing protein 19)
G294R (p.Gly294Arg) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Spermatogenic failure 72. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G294R (p.Gly294Arg) variant details
- p.Gly294Arg
- rs377160857
- ClinGen CA2891724
- ClinVar RCV000516052
- ClinVar RCV001851417
- Pathogenic/Likely pathogenic
- Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Spermatogenic failure 72
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.94
- MetaSVM 1.08
- CADD 29.90
- ClinVar: Pathogenic/Likely pathogenic (Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Spermato)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available
- Cited in: Cranioectodermal Dysplasia. (PMID 24027799)
- Cited in: Nephronophthisis-Related Ciliopathies. (PMID 27336129)