G43E (p.Gly43Glu) variant of RPGR (Q92834)
G43E (p.Gly43Glu) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RPGR-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
G43E (p.Gly43Glu) variant details
- p.Gly43Glu
- rs62638630
- ClinGen CA226352
- ClinVar RCV000085051
- ClinVar RCV003534330
- Uncertain significance
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Uncertain significance (RPGR-related retinopathy)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Structural context available
- Cited in: X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. (PMID 10937588)
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)