p.Glu48 Lys50del variant of RAG1 (P15918)
p.Glu48 Lys50del in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
p.Glu48 Lys50del variant details
- gnomAD 11-36573442-AAAGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 16.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available