Q184R (p.Gln184Arg) variant of RHO (Rhodopsin)
Q184R (p.Gln184Arg) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Retinitis pigmentosa 4; Pigmentary retinal dystrophy. 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.
Q184R (p.Gln184Arg) variant details
- p.Gln184Arg
- rs1402468701
- ClinGen CA354499186
- ClinVar RCV001075493
- ClinVar RCV001337215
- Pathogenic/Likely pathogenic
- not provided; Retinitis pigmentosa 4; Pigmentary retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.65
- CADD 23.30
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinitis pigmentosa 4; Pigmentary retinal dystrop)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)