I84T (p.Ile84Thr) variant of SH2D1A (SH2 domain-containing protein 1A)
I84T (p.Ile84Thr) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked lymphoproliferative disease due to SH2D1A deficiency. The record also includes published literature and structural context.
I84T (p.Ile84Thr) variant details
- p.Ile84Thr
- rs2522819003
- ClinGen CA414124554
- ClinVar RCV002471422
- UniProt VAR 048017
- Pathogenic
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- ClinVar: Pathogenic (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- Structural context available
- Cited in: Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the… (PMID 16720617)
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)