Q72L (p.Gln72Leu) variant of RAG1 (P15918)
Q72L (p.Gln72Leu) 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.
Q72L (p.Gln72Leu) variant details
- p.Gln72Leu
- gnomAD 11-36573519-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.09
- CADD 14.20
- PolyPhen-2 0.03
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available