K56* (p.Lys56Ter) variant of RAG1 (P15918)
K56* (p.Lys56Ter) in RAG1 (P15918) is a protein-truncating 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.
K56* (p.Lys56Ter) variant details
- p.Lys56Ter
- gnomAD 11-36573470-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 34.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available