P23H (p.Pro23His) variant of RHO (Rhodopsin)
P23H (p.Pro23His) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinal dystrophy; Retinitis pigmentosa 4; Pigmentary retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
P23H (p.Pro23His) variant details
- p.Pro23His
- rs104893768
- ClinGen CA256661
- ClinVar RCV000013887
- ClinVar RCV000490234
- Pathogenic
- Retinal dystrophy; Retinitis pigmentosa 4; Pigmentary retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.98
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 1.02
- CADD 25.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Retinal dystrophy; Retinitis pigmentosa 4; Pigmentary retinal dy)
- 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: A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the… (PMID 12091393)
- Cited in: Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal… (PMID 12566452)