E60Q (p.Glu60Gln) variant of RAG1 (P15918)
E60Q (p.Glu60Gln) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E60Q (p.Glu60Gln) variant details
- p.Glu60Gln
- gnomAD 11-36573482-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.17
- CADD 22.70
- PolyPhen-2 0.98
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available