C110F (p.Cys110Phe) variant of RHO (Rhodopsin)
C110F (p.Cys110Phe) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 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.
C110F (p.Cys110Phe) variant details
- p.Cys110Phe
- rs104893787
- ClinGen CA354496917
- ClinVar RCV003389621
- ClinVar RCV003553893
- Pathogenic/Likely pathogenic
- not provided; Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinitis pigmentosa 4)
- EBI: Pathogenic (in RP4)
- UniProt: Pathogenic (in RP4)
- Structural context available
- Cited in: Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa. (PMID 7981701)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)