S12C (p.Ser12Cys) variant of RAG1 (P15918)
S12C (p.Ser12Cys) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S12C (p.Ser12Cys) variant details
- p.Ser12Cys
- gnomAD 11-36573338-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.07
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available