W10* (p.Trp10Ter) variant of IL12B (Interleukin-12 subunit beta)
W10* (p.Trp10Ter) in IL12B (Interleukin-12 subunit beta) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
W10* (p.Trp10Ter) variant details
- p.Trp10Ter
- rs763190982
- ClinGen CA3538904
- ClinVar RCV001050613
- ExAC rs763190982
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available