C302R (p.Cys302Arg) variant of RPGR (Q92834)
C302R (p.Cys302Arg) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinitis pigmentosa 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C302R (p.Cys302Arg) variant details
- p.Cys302Arg
- rs62640589
- ClinGen CA226457
- ClinVar RCV000085132
- ClinVar RCV001251553
- Likely pathogenic
- Retinitis pigmentosa 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Retinitis pigmentosa 3)
- EBI: Pathogenic (in RP3)
- UniProt: Pathogenic (in RP3)
- Structural context available
- Cited in: Novel mutations of the RPGR gene in RP3 families. (PMID 10737996)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)