A22P (p.Ala22Pro) variant of SH2D1A (SH2 domain-containing protein 1A)
A22P (p.Ala22Pro) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in XLP1. The record also includes published literature and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- UniProt VAR 088139
- Uncertain significance
- in XLP1
- Missense
- EBI: Variant of uncertain significance (in XLP1)
- UniProt: Uncertain significance (in XLP1)
- Structural context available
- Cited in: Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP… (PMID 21119115)
- Cited in: SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients. (PMID 10598819)