N273D (p.Asn273Asp) variant of WDR19 (WD repeat-containing protein 19)
N273D (p.Asn273Asp) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
N273D (p.Asn273Asp) variant details
- p.Asn273Asp
- rs375644378
- ClinGen CA2891712
- ClinVar RCV000515807
- ClinVar RCV001204687
- Pathogenic/Likely pathogenic
- Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Spermatogenic failure 72
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.14
- ESM-1b 0.86
- AlphaMissense 0.09
- MetaLR 0.12
- MetaSVM -0.97
- CADD 14.50
- ClinVar: Pathogenic/Likely pathogenic (Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Spermato)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available
- Cited in: Cranioectodermal Dysplasia. (PMID 24027799)
- Cited in: Nephronophthisis-Related Ciliopathies. (PMID 27336129)