G32V (p.Gly32Val) variant of RAG2 (P55895)
G32V (p.Gly32Val) 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 0.90 / 1. The record also includes experimental measurements and structural context.
G32V (p.Gly32Val) variant details
- p.Gly32Val
- rs1224542443
- ClinGen CA380144678
- ClinVar RCV002586200
- ClinVar RCV003991483
- Uncertain significance
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.88
- ClinVar: Uncertain significance (Recombinase activating gene 2 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.888