K50* (p.Lys50Ter) variant of RAG1 (P15918)
K50* (p.Lys50Ter) in RAG1 (P15918) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K50* (p.Lys50Ter) variant details
- p.Lys50Ter
- gnomAD 11-36573452-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available