F30L (p.Phe30Leu) variant of RAG1 (P15918)
F30L (p.Phe30Leu) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- gnomAD 11-36573394-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.59
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available