S83R (p.Ser83Arg) variant of RAG2 (P55895)
S83R (p.Ser83Arg) in RAG2 (P55895) 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.
S83R (p.Ser83Arg) variant details
- p.Ser83Arg
- gnomAD 11-36593920-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.29
- CADD 12.60
- PolyPhen-2 0.08
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available