H209Y (p.His209Tyr) variant of PPP2R5D (Q14738)
H209Y (p.His209Tyr) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Houge-Janssens syndrome 1; not provided. The record also includes published literature and structural context.
H209Y (p.His209Tyr) variant details
- p.His209Tyr
- rs2532475494
- ClinGen CA364185536
- ClinVar RCV003441646
- ClinVar RCV006249194
- Pathogenic/Likely pathogenic
- Houge-Janssens syndrome 1; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Houge-Janssens syndrome 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PPP2R5D-Related Neurodevelopmental Disorder. (PMID 30676711)