D251H (p.Asp251His) variant of PPP2R5D (Q14738)
D251H (p.Asp251His) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
D251H (p.Asp251His) variant details
- p.Asp251His
- rs1762178916
- ClinGen CA364189036
- ClinVar RCV001265485
- ClinVar RCV002537678
- Pathogenic/Likely pathogenic
- Houge-Janssens syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- 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)