Q27R (p.Gln27Arg) variant of RAG2 (P55895)
Q27R (p.Gln27Arg) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes experimental measurements and structural context.
Q27R (p.Gln27Arg) variant details
- p.Gln27Arg
- rs1851105662
- ClinGen CA380144776
- cosmic curated COSV57560
- ClinVar RCV001325889
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- AlphaMissense 0.09
- MetaLR 0.48
- MetaSVM -0.02
- PolyPhen-2 0.09
- SIFT 0.04
- MutPred 0.65
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.668