S52S (p.Ser52Ser) variant of RAG1 (P15918)
S52S (p.Ser52Ser) in RAG1 (P15918) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S52S (p.Ser52Ser) variant details
- p.Ser52Ser
- rs544850214
- gnomAD 11-36573460-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 4.91
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available
- Literature evidence available