G320R (p.Gly320Arg) variant of RPGR (Q92834)
G320R (p.Gly320Arg) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G320R (p.Gly320Arg) variant details
- p.Gly320Arg
- rs62640593
- ClinGen CA226465
- ClinVar RCV000085137
- ClinVar RCV004815046
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Structural context available
- Cited in: RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. (PMID 14564670)
- Cited in: C2 domains as protein-protein interaction modules in the ciliary transition zone. (PMID 24981858)