R36K (p.Arg36Lys) variant of RAG1 (P15918)
R36K (p.Arg36Lys) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R36K (p.Arg36Lys) variant details
- p.Arg36Lys
- gnomAD 11-36573411-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.23
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available