S12T (p.Ser12Thr) variant of RAG1 (P15918)
S12T (p.Ser12Thr) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S12T (p.Ser12Thr) variant details
- p.Ser12Thr
- gnomAD 11-36573339-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.06
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available