Q87H (p.Gln87His) variant of IL12B (Interleukin-12 subunit beta)
Q87H (p.Gln87His) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
Q87H (p.Gln87His) variant details
- p.Gln87His
- rs2480209172
- ClinGen CA362035693
- ClinVar RCV002925723
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0643
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -1.01
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- 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)