G26E (p.Gly26Glu) variant of RAG2 (P55895)
G26E (p.Gly26Glu) in RAG2 (P55895) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G26E (p.Gly26Glu) variant details
- p.Gly26Glu
- TOPMed rs1851105838
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.46
- AlphaMissense 0.30
- MetaLR 0.70
- MetaSVM 0.51
- CADD 24.80
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.421