F53I (p.Phe53Ile) variant of RAG1 (P15918)
F53I (p.Phe53Ile) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
F53I (p.Phe53Ile) variant details
- p.Phe53Ile
- gnomAD 11-36573461-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.14
- CADD 8.89
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available