M1V (p.Met1Val) variant of SH2D1A (SH2 domain-containing protein 1A)
M1V (p.Met1Val) 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 record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2522797198
- ClinGen CA414122158
- ClinVar RCV003150604
- Pathogenic
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- ClinVar: Pathogenic (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)