G198E (p.Gly198Glu) variant of RPGR (Q92834)
G198E (p.Gly198Glu) in RPGR (Q92834) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of RPGR-related retinopathy. The record also includes structural context.
G198E (p.Gly198Glu) variant details
- p.Gly198Glu
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10013
- NCI-TCGA Cosmic COSV5883
- Likely pathogenic
- RPGR-related retinopathy
- Missense
- ClinVar: Likely pathogenic (RPGR-related retinopathy)
- UniProt: Likely pathogenic
- Structural context available