T58R (p.Thr58Arg) variant of RHO (Rhodopsin)
T58R (p.Thr58Arg) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; not provided; Retinitis pigmentosa 4. 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.
T58R (p.Thr58Arg) variant details
- p.Thr58Arg
- rs28933394
- ClinGen CA256664
- ClinVar RCV000013890
- ClinVar RCV001074373
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.82
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Retinitis pigmentosa 4)
- 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: Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. (PMID 1882937)
- Cited in: Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel… (PMID 1897520)