E43K (p.Glu43Lys) variant of RAG1 (P15918)
E43K (p.Glu43Lys) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- gnomAD 11-36573431-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.16
- CADD 17.00
- PolyPhen-2 0.09
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available