H8P (p.His8Pro) variant of SH2D1A (SH2 domain-containing protein 1A)
H8P (p.His8Pro) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of X-linked lymphoproliferative disease due to SH2D1A deficiency. The record also includes published literature and structural context.
H8P (p.His8Pro) variant details
- p.His8Pro
- rs2522797252
- ClinGen CA414122208
- ClinVar RCV003228222
- Conflicting interpretations
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- ClinVar: Conflicting classifications of pathogenicity (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- UniProt: Conflicting interpretations (in XLP1)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)