R973S (p.Arg973Ser) variant of RAG1 (P15918)
R973S (p.Arg973Ser) 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 0.53 / 1. The record also includes structural context.
R973S (p.Arg973Ser) variant details
- p.Arg973Ser
- rs1389614116
- ClinGen CA380135991
- NCI-TCGA Cosmic COSV5502
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- AlphaMissense 1.00
- MetaLR 0.47
- MetaSVM -0.19
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available