Q47* (p.Gln47Ter) variant of WDR45 (Q9Y484)

Name: WDR45 Q47* (p.Gln47Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-20
License: https://catvariant.com/terms-of-use

Q47* (p.Gln47Ter) in WDR45 (Q9Y484) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Q47* (p.Gln47Ter) variant details

p.Gln47Ter
rs2065046104
ClinGen CA412949248
ClinVar RCV001265671
Ensembl rs2065046104
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)