V345G (p.Val345Gly) variant of WDR19 (WD repeat-containing protein 19)
V345G (p.Val345Gly) 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 Nephronophthisis 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
V345G (p.Val345Gly) variant details
- p.Val345Gly
- rs387906983
- ClinGen CA129408
- ClinVar RCV000023684
- UniProt VAR 067313
- Pathogenic
- Nephronophthisis 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.86
- MetaSVM 0.85
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Pathogenic (Nephronophthisis 13)
- EBI: Pathogenic (in NPHP13)
- UniProt: Pathogenic (in NPHP13)
- Structural context available
- Cited in: Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. (PMID 22019273)
- Cited in: Nephronophthisis-Related Ciliopathies. (PMID 27336129)