C185R (p.Cys185Arg) variant of RHO (Rhodopsin)
C185R (p.Cys185Arg) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinitis pigmentosa 4; not provided; Retinal disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
C185R (p.Cys185Arg) variant details
- p.Cys185Arg
- rs1236550448
- ClinGen CA354499200
- ClinVar RCV001265194
- ClinVar RCV001377164
- Pathogenic/Likely pathogenic
- Retinitis pigmentosa 4; not provided; Retinal disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.83
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinitis pigmentosa 4; not provided; Retinal disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)