G122D (p.Gly122Asp) variant of RPGR (Q92834)
G122D (p.Gly122Asp) in RPGR (Q92834) is a missense change. Clinical records from ClinVar 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 0.70 / 1. The record also includes population frequency data and structural context.
G122D (p.Gly122Asp) variant details
- p.Gly122Asp
- cosmic curated COSV58835
- Pathogenic/Likely pathogenic
- Primary ciliary dyskinesia; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- CADD 23.50
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Primary ciliary dyskinesia; Retinal dystrophy)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available