T4K (p.Thr4Lys) variant of RHO (Rhodopsin)
T4K (p.Thr4Lys) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The record also includes published literature and structural context.
T4K (p.Thr4Lys) variant details
- p.Thr4Lys
- rs2533019344
- ClinGen CA354495098
- ClinVar RCV003890822
- UniProt VAR 004765
- Uncertain significance
- Retinal dystrophy
- Missense
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (PMID 8401533)
- Cited in: Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal… (PMID 12566452)