W10C (p.Trp10Cys) variant of IL12B (Interleukin-12 subunit beta)
W10C (p.Trp10Cys) 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 0.22 / 1. The record also includes population frequency data and structural context.
W10C (p.Trp10Cys) variant details
- p.Trp10Cys
- rs763190982
- ClinGen CA3538903
- ClinVar RCV002016361
- ExAC rs763190982
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.06
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available