Y54N (p.Tyr54Asn) variant of SH2D1A (SH2 domain-containing protein 1A)
Y54N (p.Tyr54Asn) 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 0.19 / 1. The record also includes published literature and structural context.
Y54N (p.Tyr54Asn) variant details
- p.Tyr54Asn
- rs2147531326
- ClinGen CA414123488
- ClinVar RCV002250349
- Ensembl rs2147531326
- Pathogenic
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- AlphaMissense 0.19
- ClinVar: Pathogenic (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)