E250K (p.Glu250Lys) variant of PSTPIP1 (O43586)
E250K (p.Glu250Lys) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hyperzincemia and hypercalprotectinemia; Pyogenic arthritis-pyoder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
E250K (p.Glu250Lys) variant details
- p.Glu250Lys
- rs28939089
- ClinGen CA150157
- cosmic curated COSV10586
- ClinVar RCV000084063
- Pathogenic
- not provided; Hyperzincemia and hypercalprotectinemia; Pyogenic arthritis-pyoder
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- AlphaMissense 0.73
- MetaLR 0.33
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (not provided; Hyperzincemia and hypercalprotectinemia; Pyogenic)
- EBI: Pathogenic (in AICZC)
- UniProt: Pathogenic (in AICZC)
- Structural context available
- Cited in: Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis… (PMID 22161697)
- Cited in: Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1… (PMID 26025129)