W207R (p.Trp207Arg) variant of PPP2R5D (Q14738)
W207R (p.Trp207Arg) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Genetic developmental and epileptic encephalopathy; Houge-Janssens syndrome 1; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
W207R (p.Trp207Arg) variant details
- p.Trp207Arg
- rs869320691
- ClinGen CA358858
- ClinVar RCV000201477
- ClinVar RCV004760433
- Pathogenic/Likely pathogenic
- Genetic developmental and epileptic encephalopathy; Houge-Janssens syndrome 1; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 1.00
- MetaLR 0.66
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (Genetic developmental and epileptic encephalopathy; Houge-Jansse)
- EBI: Pathogenic (in HJS1)
- UniProt: Pathogenic (in HJS1)
- Structural context available
- Cited in: B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. (PMID 26168268)
- Cited in: Large-scale discovery of novel genetic causes of developmental disorders. (PMID 25533962)