G157V (p.Gly157Val) variant of RAG2 (P55895)
G157V (p.Gly157Val) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Histiocytic medullary reticulosis; Inborn error of immunity; Recombinase activat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
G157V (p.Gly157Val) variant details
- p.Gly157Val
- rs1564997121
- ClinGen CA380142919
- ClinVar RCV000681581
- Ensembl rs1564997121
- Likely pathogenic
- Histiocytic medullary reticulosis; Inborn error of immunity; Recombinase activat
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- AlphaMissense 0.95
- MetaLR 0.87
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Likely pathogenic (Histiocytic medullary reticulosis; Inborn error of immunity; Rec)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available