G392R (p.Gly392Arg) variant of RAG1 (P15918)
G392R (p.Gly392Arg) in RAG1 (P15918) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Histiocytic medullary reticulosis; Combined immunodeficiency with skin granuloma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G392R (p.Gly392Arg) variant details
- p.Gly392Arg
- ExAC rs759928067
- TOPMed rs759928067
- gnomAD rs759928067
- Likely pathogenic
- Histiocytic medullary reticulosis; Combined immunodeficiency with skin granuloma
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.87
- MetaLR 0.62
- MetaSVM 0.31
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Histiocytic medullary reticulosis; Combined immunodeficiency wit)
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available