L11P (p.Leu11Pro) variant of RAG1 (P15918)
L11P (p.Leu11Pro) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- gnomAD 11-36573336-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.38
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available