N125S (p.Asn125Ser) variant of IL12B (Interleukin-12 subunit beta)
N125S (p.Asn125Ser) 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 0.30 / 1. The record also includes structural context.
N125S (p.Asn125Ser) variant details
- p.Asn125Ser
- rs1161325734
- ClinGen CA362034486
- ClinVar RCV001877981
- TOPMed rs1161325734
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- AlphaMissense 0.13
- MetaLR 0.03
- MetaSVM -0.98
- PolyPhen-2 0.03
- SIFT 0.09
- EVE 0.32
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available