E48D (p.Glu48Asp) variant of RAG1 (P15918)
E48D (p.Glu48Asp) in RAG1 (P15918) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- NCI-TCGA Cosmic COSV5502
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.14
- MetaSVM -0.95
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available