S297R (p.Ser297Arg) variant of RHO (Rhodopsin)
S297R (p.Ser297Arg) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cataract; Abnormal retinal pigmentation; Monocular strabismus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S297R (p.Ser297Arg) variant details
- p.Ser297Arg
- rs142285818
- ClinGen CA354470820
- ClinVar RCV000626703
- ClinVar RCV001270159
- Pathogenic
- Cataract; Abnormal retinal pigmentation; Monocular strabismus
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- AlphaMissense 1.00
- MetaLR 0.24
- MetaSVM -0.77
- PolyPhen-2 0.76
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Population evidence available
- Structural context available
- Cited in: Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa. (PMID 7987331)
- Cited in: Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal… (PMID 12566452)