R55* (p.Arg55Ter) variant of SH2D1A (SH2 domain-containing protein 1A)
R55* (p.Arg55Ter) in SH2D1A (SH2 domain-containing protein 1A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XLP1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R55* (p.Arg55Ter) variant details
- p.Arg55Ter
- rs111033623
- ClinGen CA255589
- cosmic curated COSV63579
- ClinVar RCV000011645
- Pathogenic
- in XLP1
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 36.00
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- Population evidence available
- Structural context available
- Cited in: Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. (PMID 10694488)
- Cited in: Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding… (PMID 9771704)