R229Q (p.Arg229Gln) variant of RAG2 (P55895)
R229Q (p.Arg229Gln) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Recombinase activating gene 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R229Q (p.Arg229Gln) variant details
- p.Arg229Gln
- rs121917894
- ClinGen CA122854
- ClinVar RCV000014010
- ClinVar RCV000014011
- Pathogenic
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.96
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.07
- CADD 26.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Recombinase activating gene 2 deficiency)
- EBI: Pathogenic (in T(-)B(-)NK(+) SCID)
- UniProt: Pathogenic (in T(-)B(-)NK(+) SCID)
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Structural context available
- Cited in: Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe… (PMID 11313270)
- Cited in: RAG mutations in human B cell-negative SCID. (PMID 8810255)