R699W (p.Arg699Trp) variant of RAG1 (P15918)
R699W (p.Arg699Trp) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Recombinase activating gene 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R699W (p.Arg699Trp) variant details
- p.Arg699Trp
- rs199474676
- ClinGen CA219824
- NCI-TCGA Cosmic COSV5502
- ClinVar RCV000059570
- Likely pathogenic
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.82
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Recombinase activating gene 1 deficiency)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Cited in: Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. (PMID 21771083)
- Cited in: Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. (PMID 10606976)