A230T (p.Ala230Thr) variant of PSTPIP1 (O43586)
A230T (p.Ala230Thr) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PSTPIP1-related disorder; not provided; Pyogenic arthritis-pyoderma gangrenosum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A230T (p.Ala230Thr) variant details
- p.Ala230Thr
- rs121908130
- ClinGen CA116855
- NCI-TCGA Cosmic COSV5119
- cosmic curated COSV51198
- Pathogenic
- PSTPIP1-related disorder; not provided; Pyogenic arthritis-pyoderma gangrenosum
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- MetaLR 0.11
- MetaSVM -0.82
- CADD 15.00
- PolyPhen-2 0.12
- SIFT 0.06
- ClinVar: Pathogenic (PSTPIP1-related disorder; not provided; Pyogenic arthritis-pyode)
- EBI: Pathogenic (in PAPA)
- UniProt: Pathogenic (in PAPA)
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)