T53I (p.Thr53Ile) variant of SH2D1A (SH2 domain-containing protein 1A)
T53I (p.Thr53Ile) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
T53I (p.Thr53Ile) variant details
- p.Thr53Ile
- rs2522814903
- ClinGen CA414123480
- ClinVar RCV003153153
- UniProt VAR 048014
- Uncertain significance
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.87
- MetaLR 0.83
- MetaSVM 0.83
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.68
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- Population evidence available
- Structural context available
- Cited in: Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in… (PMID 11049992)
- Cited in: Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients. (PMID 11477068)