G275S (p.Gly275Ser) variant of RPGR (Q92834)
G275S (p.Gly275Ser) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
G275S (p.Gly275Ser) variant details
- p.Gly275Ser
- rs62642057
- ClinGen CA412741594
- ClinVar RCV003030558
- ClinVar RCV005638193
- Pathogenic
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (RPGR-related retinopathy)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Structural context available
- Cited in: Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange… (PMID 8817343)
- Cited in: The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. (PMID 9990021)