S447C (p.Ser447Cys) variant of RAG2 (P55895)
S447C (p.Ser447Cys) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
S447C (p.Ser447Cys) variant details
- p.Ser447Cys
- gnomAD rs1167613727
- Likely pathogenic
- Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal r
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.91
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Histiocytic medullary reticulosis; Severe combined immunodeficie)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available