A45T (p.Ala45Thr) variant of RAG1 (P15918)
A45T (p.Ala45Thr) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- gnomAD 11-36573437-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.07
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available