C250Y (p.Cys250Tyr) variant of RPGR (Q92834)
C250Y (p.Cys250Tyr) in RPGR (Q92834) 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; Primary ciliary dyskinesia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
C250Y (p.Cys250Tyr) variant details
- p.Cys250Tyr
- rs1601961064
- ClinGen CA412742575
- ClinVar RCV000990777
- ClinVar RCV002549752
- Pathogenic/Likely pathogenic
- not provided; Retinitis pigmentosa; Primary ciliary dyskinesia
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinitis pigmentosa; Primary ciliary dyskinesia)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Structural context available
- Cited in: A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis… (PMID 11992260)
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)