F53L (p.Phe53Leu) variant of RAG1 (P15918)
F53L (p.Phe53Leu) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
F53L (p.Phe53Leu) variant details
- p.Phe53Leu
- gnomAD 11-36573463-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.16
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available