S4P (p.Ser4Pro) variant of RAG1 (P15918)
S4P (p.Ser4Pro) 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.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- gnomAD 11-36573314-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.09
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available