F131V (p.Phe131Val) variant of PPP2R5D (Q14738)
F131V (p.Phe131Val) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Houge-Janssens syndrome 1. The record also includes published literature and structural context.
F131V (p.Phe131Val) variant details
- p.Phe131Val
- rs2532473884
- ClinGen CA364182659
- ClinVar RCV004555953
- Likely pathogenic
- Houge-Janssens syndrome 1
- Missense
- ClinVar: Likely pathogenic (Houge-Janssens syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: PPP2R5D-Related Neurodevelopmental Disorder. (PMID 30676711)