R413K (p.Arg413Lys) variant of RPGR (Q92834)
R413K (p.Arg413Lys) 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.
R413K (p.Arg413Lys) variant details
- p.Arg413Lys
- cosmic curated COSV58834
- Uncertain significance
- Primary ciliary dyskinesia
- Missense
- ClinVar: Uncertain significance (Primary ciliary dyskinesia)
- UniProt: Uncertain significance
- Structural context available