C44Y (p.Cys44Tyr) variant of SH2D1A (SH2 domain-containing protein 1A)
C44Y (p.Cys44Tyr) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked lymphoproliferative disease due to SH2D1A deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
C44Y (p.Cys44Tyr) variant details
- p.Cys44Tyr
- rs2059993925
- ClinGen CA414122452
- ClinVar RCV001215514
- Ensembl rs2059993925
- Uncertain significance
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)