E132K (p.Glu132Lys) variant of IL12B (Interleukin-12 subunit beta)
E132K (p.Glu132Lys) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E132K (p.Glu132Lys) variant details
- p.Glu132Lys
- rs139186048
- ClinGen CA3538808
- ClinVar RCV003071639
- ClinVar RCV003269419
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.17
- MetaLR 0.06
- MetaSVM -1.05
- CADD 23.10
- PolyPhen-2 0.27
- SIFT 0.01
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)