D190Y (p.Asp190Tyr) variant of RHO (Rhodopsin)
D190Y (p.Asp190Tyr) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
D190Y (p.Asp190Tyr) variant details
- p.Asp190Tyr
- rs104893779
- ClinGen CA256684
- ClinVar RCV000013915
- ClinVar RCV000504953
- Pathogenic
- not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.72
- AlphaMissense 0.92
- MetaLR 0.24
- MetaSVM -0.51
- CADD 26.30
- PolyPhen-2 0.99
- ClinVar: Pathogenic (not provided; Retinitis pigmentosa)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant… (PMID 1580841)
- Cited in: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (PMID 8401533)