G32E (p.Gly32Glu) variant of RAG2 (P55895)
G32E (p.Gly32Glu) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.84 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G32E (p.Gly32Glu) variant details
- p.Gly32Glu
- rs1224542443
- ClinGen CA380144682
- ClinVar RCV003058303
- ClinVar RCV006262341
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.85
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.92
- CADD 25.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.888