P23S (p.Pro23Ser) variant of RHO (Rhodopsin)
P23S (p.Pro23Ser) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- rs104893797
- ClinGen CA354495494
- ClinVar RCV001262654
- Ensembl rs104893797
- Likely 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: Likely pathogenic (Retinitis pigmentosa 4)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)