Y47C (p.Tyr47Cys) variant of SH2D1A (SH2 domain-containing protein 1A)
Y47C (p.Tyr47Cys) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Y47C (p.Tyr47Cys) variant details
- p.Tyr47Cys
- rs2522814875
- ClinGen CA414123382
- ClinVar RCV002304850
- Uncertain significance
- X-linked lymphoproliferative disease due to SH2D1A deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.47
- MetaLR 0.39
- MetaSVM -0.44
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (X-linked lymphoproliferative disease due to SH2D1A deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)