S41L (p.Ser41Leu) variant of RPGR (Q92834)
S41L (p.Ser41Leu) in RPGR (Q92834) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
S41L (p.Ser41Leu) variant details
- p.Ser41Leu
- cosmic curated COSV58836
- TOPMed rs2067985937
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available