E67G (p.Glu67Gly) variant of SH2D1A (SH2 domain-containing protein 1A)
E67G (p.Glu67Gly) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in XLP1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E67G (p.Glu67Gly) variant details
- p.Glu67Gly
- UniProt VAR 088143
- Uncertain significance
- in XLP1
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.81
- MetaLR 0.87
- MetaSVM 0.90
- CADD 33.00
- PolyPhen-2 0.42
- SIFT 0.49
- EBI: Variant of uncertain significance (in XLP1)
- UniProt: Uncertain significance (in XLP1)
- Population evidence available
- Structural context available
- Cited in: Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP… (PMID 21119115)
- Cited in: SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients. (PMID 10598819)