P23L (p.Pro23Leu) variant of RHO (Rhodopsin)
P23L (p.Pro23Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs104893768
- ClinGen CA354495503
- ClinVar RCV001384458
- ClinVar RCV003888084
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. (PMID 1833777)
- Cited in: Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal… (PMID 12566452)