R73H (p.Arg73His) variant of RAG2 (P55895)
R73H (p.Arg73His) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R73H (p.Arg73His) variant details
- p.Arg73His
- rs762407838
- ClinGen CA5950607
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10027
- Pathogenic/Likely pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.88
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.109