R127G (p.Arg127Gly) variant of RPGR (Q92834)
R127G (p.Arg127Gly) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinal dystrophy; not provided; Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
R127G (p.Arg127Gly) variant details
- p.Arg127Gly
- rs62638643
- ClinGen CA226416
- ClinVar RCV000085104
- ClinVar RCV001075065
- Conflicting interpretations
- Retinal dystrophy; not provided; Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.60
- MetaLR 0.64
- MetaSVM 0.32
- PolyPhen-2 0.96
- SIFT 0.04
- EVE 0.88
- ClinVar: Conflicting classifications of pathogenicity (Retinal dystrophy; not provided; Primary ciliary dyskinesia)
- 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: A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis… (PMID 11992260)