K40K (p.Lys40Lys) variant of RAG1 (P15918)
K40K (p.Lys40Lys) in RAG1 (P15918) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K40K (p.Lys40Lys) variant details
- p.Lys40Lys
- rs779958394
- gnomAD 11-36573424-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 8.73
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available