R55L (p.Arg55Leu) variant of SH2D1A (SH2 domain-containing protein 1A)
R55L (p.Arg55Leu) 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 0.15 / 1. The record also includes published literature and structural context.
R55L (p.Arg55Leu) variant details
- p.Arg55Leu
- rs111033630
- ClinGen CA255607
- cosmic curated COSV63579
- ClinVar RCV000011657
- Pathogenic
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- AlphaMissense 0.15
- ClinVar: Pathogenic (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- Structural context available
- Cited in: Defective NK cell activation in X-linked lymphoproliferative disease. (PMID 11034354)
- Cited in: Disease-causing SAP mutants are defective in ligand binding and protein folding. (PMID 14674764)