G26A (p.Gly26Ala) variant of RAG2 (P55895)
G26A (p.Gly26Ala) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Recombinase activating gene 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes experimental measurements and structural context.
G26A (p.Gly26Ala) variant details
- p.Gly26Ala
- rs1851105838
- ClinGen CA380144800
- ClinVar RCV001278475
- ClinVar RCV004765351
- Uncertain significance
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 0.30
- MetaLR 0.70
- MetaSVM 0.51
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.90
- ClinVar: Uncertain significance (Recombinase activating gene 2 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.421