E243D (p.Glu243Asp) variant of RPGR (Q92834)
E243D (p.Glu243Asp) in RPGR (Q92834) is a missense change. The record also includes structural context.
E243D (p.Glu243Asp) variant details
- p.Glu243Asp
- cosmic curated COSV10013
- Missense
- Structural context available