G112D (p.Gly112Asp) variant of RPGR (Q92834)
G112D (p.Gly112Asp) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Primary ciliary dyskinesia; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G112D (p.Gly112Asp) variant details
- p.Gly112Asp
- rs2067878321
- ClinGen CA412745285
- cosmic curated COSV58840
- ClinVar RCV001073580
- Pathogenic/Likely pathogenic
- Primary ciliary dyskinesia; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Primary ciliary dyskinesia; Retinal dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)