M1T (p.Met1Thr) variant of RAG2 (P55895)
M1T (p.Met1Thr) 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 record also includes variant effect predictions, experimental measurements, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1554947410
- ClinGen CA380145372
- ClinVar RCV000579362
- ClinVar RCV000681570
- Uncertain significance
- Recombinase activating gene 2 deficiency
- Missense
- MetaLR 0.93
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.65
- ClinVar: Uncertain significance (Recombinase activating gene 2 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.19