Y7C (p.Tyr7Cys) variant of SH2D1A (SH2 domain-containing protein 1A)
Y7C (p.Tyr7Cys) 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 syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
Y7C (p.Tyr7Cys) variant details
- p.Tyr7Cys
- rs1569527111
- ClinGen CA414122199
- ClinVar RCV000781847
- UniProt VAR 048005
- Pathogenic
- X-linked lymphoproliferative syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (X-linked lymphoproliferative syndrome)
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- Structural context available
- Cited in: Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in… (PMID 11049992)
- Cited in: Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients. (PMID 11477068)