P23A (p.Pro23Ala) variant of RHO (Rhodopsin)
P23A (p.Pro23Ala) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinitis pigmentosa 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- rs104893797
- ClinGen CA256695
- ClinVar RCV000013930
- Ensembl rs104893797
- Pathogenic
- Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 0.56
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Pathogenic (Retinitis pigmentosa 4)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical… (PMID 10980774)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)