G90D (p.Gly90Asp) variant of RHO (Rhodopsin)
G90D (p.Gly90Asp) 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 0.75 / 1. The record also includes published literature and structural context.
G90D (p.Gly90Asp) variant details
- p.Gly90Asp
- rs104893790
- ClinGen CA122823
- ClinVar RCV000013920
- ClinVar RCV001195814
- Pathogenic
- Retinal dystrophy; not provided; Pigmentary retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- AlphaMissense 0.99
- MetaLR 0.70
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Retinal dystrophy; not provided; Pigmentary retinal dystrophy)
- EBI: Pathogenic (in CSNBAD1)
- UniProt: Pathogenic (in CSNBAD1)
- Structural context available
- Cited in: Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation. (PMID 7846071)
- Cited in: Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. (PMID 8107847)