R159C (p.Arg159Cys) variant of RAG2 (P55895)
R159C (p.Arg159Cys) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Severe combined immunodeficiency disease; Histiocytic medullary re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R159C (p.Arg159Cys) variant details
- p.Arg159Cys
- rs764485070
- ClinGen CA5950570
- NCI-TCGA Cosmic COSV5755
- cosmic curated COSV57557
- Pathogenic/Likely pathogenic
- not provided; Severe combined immunodeficiency disease; Histiocytic medullary re
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.89
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Severe combined immunodeficiency disease; Histiocy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available