E198K (p.Glu198Lys) variant of PPP2R5D (Q14738)
E198K (p.Glu198Lys) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Houge-Janssens syndrome 1; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
E198K (p.Glu198Lys) variant details
- p.Glu198Lys
- rs863225082
- ClinGen CA325481
- NCI-TCGA Cosmic COSV5515
- cosmic curated COSV55150
- Pathogenic
- Houge-Janssens syndrome 1; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- AlphaMissense 1.00
- MetaLR 0.61
- MetaSVM 0.40
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Houge-Janssens syndrome 1; Inborn genetic diseases; not provided)
- EBI: Pathogenic (in HJS1)
- UniProt: Pathogenic (in HJS1)
- Structural context available
- Cited in: Large-scale discovery of novel genetic causes of developmental disorders. (PMID 25533962)
- Cited in: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. (PMID 25972378)