G267R (p.Gly267Arg) variant of RPGR (Q92834)
G267R (p.Gly267Arg) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G267R (p.Gly267Arg) variant details
- p.Gly267Arg
- rs2147248035
- ClinGen CA412741694
- ClinVar RCV001531768
- UniProt VAR 026127
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- 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: Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis… (PMID 10482958)