M1V (p.Met1Val) variant of RAG1 (P15918)
M1V (p.Met1Val) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Recombinase activating gene 1 deficiency. The record also includes variant effect predictions, population frequency data, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs200575481
- ClinGen CA5949886
- ClinVar RCV001065533
- ClinVar RCV001753766
- Uncertain significance
- Recombinase activating gene 1 deficiency
- Missense
- MetaLR 0.52
- MetaSVM 0.11
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Recombinase activating gene 1 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available