R973H (p.Arg973His) variant of RAG1 (P15918)
R973H (p.Arg973His) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R973H (p.Arg973His) variant details
- p.Arg973His
- rs1384545687
- ClinGen CA380135994
- NCI-TCGA Cosmic COSV5502
- ClinVar RCV003472557
- Pathogenic/Likely pathogenic
- Severe combined immunodeficiency disease; Severe combined immunodeficiency, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.67
- AlphaMissense 0.96
- MetaLR 0.55
- MetaSVM -0.05
- CADD 28.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Severe combined immunodeficiency disease; Severe combined immuno)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available