E44K (p.Glu44Lys) variant of RAG1 (P15918)
E44K (p.Glu44Lys) in RAG1 (P15918) 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 0.36 / 1. The record also includes structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- rs1850778515
- ClinGen CA380145661
- ClinVar RCV002045524
- TOPMed rs1850778515
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.09
- MetaLR 0.25
- MetaSVM -0.60
- PolyPhen-2 0.00
- SIFT 0.06
- MutPred 0.33
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available