Y178H (p.Tyr178His) variant of RHO (Rhodopsin)
Y178H (p.Tyr178His) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.84 / 1. The record also includes published literature and structural context.
Y178H (p.Tyr178His) variant details
- p.Tyr178His
- rs2084785435
- ClinGen CA354499057
- ClinVar RCV001075883
- ClinVar RCV001265191
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 0.99
- MetaLR 0.73
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Retinitis pigmentosa 4)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)