G157R (p.Gly157Arg) variant of RAG2 (P55895)
G157R (p.Gly157Arg) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 structural context.
G157R (p.Gly157Arg) variant details
- p.Gly157Arg
- rs756676209
- ClinGen CA380142925
- ClinVar RCV002022809
- ExAC rs756676209
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- AlphaMissense 0.94
- MetaLR 0.87
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available