C187F (p.Cys187Phe) variant of RHO (Rhodopsin)
C187F (p.Cys187Phe) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinal dystrophy; not provided; Retinitis pigmentosa 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
C187F (p.Cys187Phe) variant details
- p.Cys187Phe
- rs1578280588
- ClinGen CA354499242
- ClinVar RCV001074608
- ClinVar RCV001265197
- Likely pathogenic
- Retinal dystrophy; not provided; Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Retinal dystrophy; not provided; Retinitis pigmentosa 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)