P340H (p.Pro340His) variant of RPGR (Q92834)
P340H (p.Pro340His) in RPGR (Q92834) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Primary ciliary dyskinesia. The record also includes structural context.
P340H (p.Pro340His) variant details
- p.Pro340His
- cosmic curated COSV10014
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- UniProt: Uncertain significance
- Structural context available