L31P (p.Leu31Pro) variant of SH2D1A (SH2 domain-containing protein 1A)
L31P (p.Leu31Pro) 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 variant effect predictions, published literature, and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- UniProt VAR 048010
- Uncertain significance
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- MetaLR 0.83
- MetaSVM 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- 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: Disease-causing SAP mutants are defective in ligand binding and protein folding. (PMID 14674764)