E250Q (p.Glu250Gln) variant of PSTPIP1 (O43586)
E250Q (p.Glu250Gln) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pyogenic arthritis-pyoderma gangrenosum-acne syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
E250Q (p.Glu250Gln) variant details
- p.Glu250Gln
- rs28939089
- ClinGen CA116853
- ClinVar RCV000004684
- UniProt VAR 023523
- Pathogenic
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- 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 (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome)
- EBI: Pathogenic (in PAPA and AICZC)
- UniProt: Pathogenic (in PAPA and AICZC)
- Structural context available
- Cited in: Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. (PMID 11971877)
- Cited in: Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the… (PMID 14595024)