A2T (p.Ala2Thr) variant of RAG1 (P15918)
A2T (p.Ala2Thr) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 11-36573308-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.22
- CADD 22.70
- PolyPhen-2 0.16
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available