T8P (p.Thr8Pro) variant of RAG1 (P15918)
T8P (p.Thr8Pro) in RAG1 (P15918) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T8P (p.Thr8Pro) variant details
- p.Thr8Pro
- gnomAD 11-36573322-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 17.00
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available