I51T (p.Ile51Thr) variant of SH2D1A (SH2 domain-containing protein 1A)
I51T (p.Ile51Thr) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked lymphoproliferative disease due to SH2D1A deficiency. The record also includes published literature and structural context.
I51T (p.Ile51Thr) variant details
- p.Ile51Thr
- rs2522814895
- ClinGen CA414123444
- ClinVar RCV003622577
- Uncertain significance
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)