P53R (p.Pro53Arg) variant of RHO (Rhodopsin)
P53R (p.Pro53Arg) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Retinitis pigmentosa 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
P53R (p.Pro53Arg) variant details
- p.Pro53Arg
- rs28933395
- ClinGen CA256682
- ClinVar RCV000013912
- ClinVar RCV000504903
- Pathogenic
- not provided; Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.99
- MetaLR 0.34
- MetaSVM -0.17
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (not provided; Retinitis pigmentosa 4)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q. (PMID 8328469)
- Cited in: Rhodopsin mutations in autosomal dominant retinitis pigmentosa. (PMID 8401533)