A2V (p.Ala2Val) variant of RAG1 (P15918)
A2V (p.Ala2Val) 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.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 11-36573309-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.13
- CADD 20.90
- PolyPhen-2 0.21
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available