R973P (p.Arg973Pro) variant of RAG1 (P15918)
R973P (p.Arg973Pro) in RAG1 (P15918) 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 0.59 / 1. The record also includes structural context.
R973P (p.Arg973Pro) variant details
- p.Arg973Pro
- rs1384545687
- ClinGen CA380135996
- ClinVar RCV001070572
- gnomAD rs1384545687
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.96
- MetaLR 0.55
- MetaSVM -0.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available