T68I (p.Thr68Ile) variant of SH2D1A (SH2 domain-containing protein 1A)
T68I (p.Thr68Ile) in SH2D1A (SH2 domain-containing protein 1A) is a missense 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 0.86 / 1. The record also includes published literature and structural context.
T68I (p.Thr68Ile) variant details
- p.Thr68Ile
- rs111033627
- ClinGen CA255602
- ClinVar RCV000011652
- UniProt VAR 005613
- Pathogenic
- in XLP1
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- AlphaMissense 0.92
- MetaLR 0.82
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- Structural context available
- Cited in: Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients. (PMID 11477068)
- Cited in: A "three-pronged" binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndrome. (PMID 11823424)