G51R (p.Gly51Arg) variant of RHO (Rhodopsin)
G51R (p.Gly51Arg) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RHO-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G51R (p.Gly51Arg) variant details
- p.Gly51Arg
- rs104893792
- ClinGen CA256687
- ClinVar RCV000013922
- ClinVar RCV001237838
- Pathogenic
- RHO-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.52
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (RHO-related disorder; not provided)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. (PMID 8088850)
- Cited in: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (PMID 8401533)