Q28R (p.Gln28Arg) variant of RHO (Rhodopsin)
Q28R (p.Gln28Arg) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
Q28R (p.Gln28Arg) variant details
- p.Gln28Arg
- rs1553780837
- ClinGen CA354495583
- ClinVar RCV000505117
- ClinVar RCV001296378
- Pathogenic
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.65
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.85
- ClinVar: Pathogenic (Retinal dystrophy; not provided)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)