D16E (p.Asp16Glu) variant of RAG1 (P15918)
D16E (p.Asp16Glu) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
D16E (p.Asp16Glu) variant details
- p.Asp16Glu
- gnomAD 11-36573352-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.17
- CADD 0.42
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available