G173R (p.Gly173Arg) variant of RPGR (Q92834)
G173R (p.Gly173Arg) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RPGR-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G173R (p.Gly173Arg) variant details
- p.Gly173Arg
- rs137852550
- ClinGen CA120805
- ClinVar RCV003128227
- ClinVar RCV003151715
- Likely pathogenic
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (RPGR-related retinopathy)
- EBI: Pathogenic (in RP3 and RPSRDF)
- UniProt: Pathogenic (in RP3 and RPSRDF)
- Structural context available
- Cited in: A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis… (PMID 11992260)
- Cited in: Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and… (PMID 14627685)