R32T (p.Arg32Thr) variant of SH2D1A (SH2 domain-containing protein 1A)
R32T (p.Arg32Thr) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R32T (p.Arg32Thr) variant details
- p.Arg32Thr
- rs111033624
- ClinGen CA255595
- ClinVar RCV000011648
- UniProt VAR 005612
- Pathogenic
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- Structural context available
- Cited in: SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients. (PMID 10598819)
- Cited in: Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding… (PMID 9771704)