G52* (p.Gly52Ter) variant of RPGR (Q92834)

Name: RPGR G52* (p.Gly52Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

G52* (p.Gly52Ter) in RPGR (Q92834) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes published literature and structural context.

G52* (p.Gly52Ter) variant details

p.Gly52Ter
rs281865296
ClinGen CA226368
cosmic curated COSV10014
ClinVar RCV000085062
Pathogenic
Stop Gained
Variant Prioritization Score for Impact Estimate 0.114
AlphaMissense 0.11
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)