E197G (p.Glu197Gly) variant of PPP2R5D (Q14738)
E197G (p.Glu197Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
E197G (p.Glu197Gly) variant details
- p.Glu197Gly
- rs1339608272
- ClinGen CA364185130
- ClinVar RCV001265484
- TOPMed rs1339608272
- Likely pathogenic
- Houge-Janssens syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- AlphaMissense 0.99
- MetaLR 0.43
- MetaSVM 0.15
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Houge-Janssens syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: PPP2R5D-Related Neurodevelopmental Disorder. (PMID 30676711)