R135W (p.Arg135Trp) variant of RHO (Rhodopsin)
R135W (p.Arg135Trp) 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; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R135W (p.Arg135Trp) variant details
- p.Arg135Trp
- rs104893775
- ClinGen CA122819
- ClinVar RCV000013902
- ClinVar RCV000013903
- Pathogenic
- Retinal dystrophy; not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.93
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Retinal dystrophy; not provided; Retinitis pigmentosa)
- 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: A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation… (PMID 1484692)
- Cited in: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (PMID 1862076)