E67A (p.Glu67Ala) variant of IL12B (Interleukin-12 subunit beta)
E67A (p.Glu67Ala) in IL12B (Interleukin-12 subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
E67A (p.Glu67Ala) variant details
- p.Glu67Ala
- rs1350168012
- ClinGen CA362036298
- ClinVar RCV001227278
- TOPMed rs1350168012
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.11
- MetaLR 0.06
- MetaSVM -1.03
- PolyPhen-2 0.10
- SIFT 0.03
- EVE 0.42
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available