G43R (p.Gly43Arg) variant of RPGR (Q92834)
G43R (p.Gly43Arg) 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 0.88 / 1. The record also includes published literature and structural context.
G43R (p.Gly43Arg) variant details
- p.Gly43Arg
- rs62638629
- ClinGen CA226350
- ClinVar RCV000085050
- ClinVar RCV006451927
- Uncertain significance
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- AlphaMissense 0.98
- 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: Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis… (PMID 10482958)