I520T (p.Ile520Thr) variant of WDR19 (WD repeat-containing protein 19)
I520T (p.Ile520Thr) in WDR19 (WD repeat-containing protein 19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nephronophthisis 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
I520T (p.Ile520Thr) variant details
- p.Ile520Thr
- rs1730093487
- ClinGen CA356632097
- ClinVar RCV001175235
- Ensembl rs1730093487
- Likely pathogenic
- Nephronophthisis 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.89
- MetaSVM 1.06
- PolyPhen-2 0.68
- SIFT 0.01
- ClinVar: Likely pathogenic (Nephronophthisis 13)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Nephronophthisis-Related Ciliopathies. (PMID 27336129)