C110R (p.Cys110Arg) variant of RHO (Rhodopsin)
C110R (p.Cys110Arg) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinal dystrophy; Retinitis pigmentosa 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C110R (p.Cys110Arg) variant details
- p.Cys110Arg
- rs1578278438
- ClinGen CA354496911
- ClinVar RCV001075603
- ClinVar RCV001265180
- Pathogenic
- Retinal dystrophy; Retinitis pigmentosa 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.86
- AlphaMissense 0.98
- MetaLR 0.65
- MetaSVM 0.71
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Retinal dystrophy; Retinitis pigmentosa 4; not provided)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)