C302Y (p.Cys302Tyr) variant of RPGR (Q92834)
C302Y (p.Cys302Tyr) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinal dystrophy; Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
C302Y (p.Cys302Tyr) variant details
- p.Cys302Tyr
- rs62640590
- ClinGen CA10385580
- ClinVar RCV000246205
- ClinVar RCV000443150
- Conflicting interpretations
- Retinal dystrophy; Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Retinal dystrophy; Primary ciliary dyskinesia)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Population evidence available
- Structural context available
- Cited in: X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. (PMID 10937588)
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)