F130C (p.Phe130Cys) variant of RPGR (Q92834)
F130C (p.Phe130Cys) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RPGR-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
F130C (p.Phe130Cys) variant details
- p.Phe130Cys
- rs62638644
- ClinGen CA412745161
- ClinVar RCV001199761
- ClinVar RCV005093039
- Uncertain significance
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- AlphaMissense 0.82
- MetaLR 0.76
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.92
- ClinVar: Uncertain significance (RPGR-related retinopathy)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Structural context available
- Cited in: Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and… (PMID 20631154)
- Cited in: Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange… (PMID 8817343)