L46R (p.Leu46Arg) variant of RHO (Rhodopsin)
L46R (p.Leu46Arg) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
L46R (p.Leu46Arg) variant details
- p.Leu46Arg
- rs2084757073
- ClinGen CA354495905
- ClinVar RCV001090661
- UniProt VAR 004774
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.97
- MetaLR 0.21
- MetaSVM -0.55
- PolyPhen-2 0.32
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal… (PMID 8364589)
- Cited in: Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal… (PMID 12566452)