M1V (p.Met1Val) variant of RAG2 (P55895)
M1V (p.Met1Val) 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.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1564997814
- ClinGen CA380145381
- ClinVar RCV000766111
- ClinVar RCV003768299
- Uncertain significance
- Recombinase activating gene 2 deficiency
- Missense
- MetaLR 0.93
- MetaSVM 0.74
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.66
- 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