G95R (p.Gly95Arg) variant of RAG2 (P55895)
G95R (p.Gly95Arg) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Recombinase activating gene 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G95R (p.Gly95Arg) variant details
- p.Gly95Arg
- rs36001797
- ClinGen CA380143806
- ClinVar RCV000681579
- ClinVar RCV005606679
- Conflicting interpretations
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.94
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Histiocytic medullary reticulosis; Inborn error of immunity; Rec)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00038)
- Structural context available
- Cited in: Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result… (PMID 10891502)