V7G (p.Val7Gly) variant of IL12B (Interleukin-12 subunit beta)
V7G (p.Val7Gly) 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 0.29 / 1. The record also includes published literature and structural context.
V7G (p.Val7Gly) variant details
- p.Val7Gly
- rs1754197608
- ClinGen CA362038667
- ClinVar RCV003194339
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.02
- PolyPhen-2 0.10
- SIFT 0.02
- MutPred 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)