E85Q (p.Glu85Gln) variant of RAG2 (P55895)
E85Q (p.Glu85Gln) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E85Q (p.Glu85Gln) variant details
- p.Glu85Gln
- rs775526056
- ClinGen CA5950600
- ClinVar RCV002770893
- ExAC rs775526056
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.34
- CADD 16.00
- PolyPhen-2 0.22
- SIFT 0.10
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-05)
- Structural context available