G51V (p.Gly51Val) variant of RHO (Rhodopsin)
G51V (p.Gly51Val) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G51V (p.Gly51Val) variant details
- p.Gly51Val
- rs149079952
- ClinGen CA354495947
- ClinVar RCV001074351
- ClinVar RCV002557910
- Pathogenic
- not provided; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.55
- CADD 25.00
- ClinVar: Pathogenic (not provided; Retinal dystrophy)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. (PMID 1833777)
- Cited in: Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal… (PMID 12566452)