H481R (p.His481Arg) variant of WDR19 (WD repeat-containing protein 19)
H481R (p.His481Arg) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
H481R (p.His481Arg) variant details
- p.His481Arg
- rs1729264976
- ClinGen CA356631253
- ClinVar RCV001281113
- ClinVar RCV001290087
- Likely pathogenic
- Nephronophthisis 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.49
- MetaLR 0.11
- MetaSVM -1.01
- CADD 23.10
- ClinVar: Likely pathogenic (Nephronophthisis 13)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association. (PMID 33002628)
- Cited in: Nephronophthisis-Related Ciliopathies. (PMID 27336129)