C250R (p.Cys250Arg) variant of RPGR (Q92834)
C250R (p.Cys250Arg) in RPGR (Q92834) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C250R (p.Cys250Arg) variant details
- p.Cys250Arg
- rs62650220
- ClinGen CA226442
- ClinVar RCV000085121
- UniProt VAR 008506
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.95
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Structural context available
- Cited in: Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. (PMID 10932196)
- Cited in: A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa… (PMID 8673101)