G89D (p.Gly89Asp) variant of RHO (Rhodopsin)
G89D (p.Gly89Asp) 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; Pigmentary retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
G89D (p.Gly89Asp) variant details
- p.Gly89Asp
- rs104893772
- ClinGen CA256668
- ClinVar RCV000013895
- ClinVar RCV001003167
- Pathogenic
- Retinal dystrophy; not provided; Pigmentary retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- AlphaMissense 0.98
- MetaLR 0.54
- MetaSVM 0.41
- PolyPhen-2 0.78
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (Retinal dystrophy; not provided; Pigmentary retinal dystrophy)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (PMID 1862076)
- Cited in: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (PMID 8401533)