L129* (p.Leu129Ter) variant of IL12B (Interleukin-12 subunit beta)
L129* (p.Leu129Ter) in IL12B (Interleukin-12 subunit beta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L129* (p.Leu129Ter) variant details
- p.Leu129Ter
- gnomAD 5-159322494-AG-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 28.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available