K50del (p.Lys50del) variant of RAG1 (P15918)
K50del (p.Lys50del) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K50del (p.Lys50del) variant details
- rs1286475782
- gnomAD 11-36573448-AAAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 15.90
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available
- Literature evidence available