G16D (p.Gly16Asp) variant of SH2D1A (SH2 domain-containing protein 1A)
G16D (p.Gly16Asp) 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 record also includes variant effect predictions, published literature, and structural context.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- UniProt VAR 048007
- Pathogenic
- in XLP1
- Missense
- MetaLR 0.96
- MetaSVM 1.11
- SIFT 0.02
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- Structural context available
- Cited in: Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease. (PMID 15841490)
- Cited in: SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients. (PMID 10598819)