R39G (p.Arg39Gly) variant of RAG2 (P55895)
R39G (p.Arg39Gly) 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 0.95 / 1. The record also includes experimental measurements, published literature, and structural context.
R39G (p.Arg39Gly) variant details
- p.Arg39Gly
- rs121917897
- ClinGen CA122867
- ClinVar RCV000014017
- ClinVar RCV000014018
- Pathogenic
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.947
- AlphaMissense 0.95
- MetaLR 0.92
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (Recombinase activating gene 2 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score 0.014
- 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)