E200K (p.Glu200Lys) variant of PPP2R5D (Q14738)
E200K (p.Glu200Lys) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Houge-Janssens syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
E200K (p.Glu200Lys) variant details
- p.Glu200Lys
- rs863225079
- ClinGen CA325480
- ClinVar RCV000201454
- ClinVar RCV000202069
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Houge-Janssens syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- AlphaMissense 1.00
- MetaLR 0.46
- MetaSVM 0.15
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Houge-Janssens syndrome 1; not provided)
- EBI: Pathogenic (in HJS1)
- UniProt: Pathogenic (in HJS1)
- Structural context available
- Cited in: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. (PMID 25972378)
- Cited in: B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. (PMID 26168268)