G106R (p.Gly106Arg) variant of RHO (Rhodopsin)
G106R (p.Gly106Arg) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinal dystrophy; not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G106R (p.Gly106Arg) variant details
- p.Gly106Arg
- rs104893773
- ClinGen CA354496864
- ClinVar RCV001229349
- UniProt VAR 004786
- Pathogenic
- Retinal dystrophy; not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.66
- AlphaMissense 0.99
- MetaLR 0.54
- MetaSVM 0.52
- CADD 28.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and… (PMID 8317502)
- Cited in: Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant… (PMID 1580841)