E28G (p.Glu28Gly) variant of IL12RB1 (P42701)
E28G (p.Glu28Gly) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Mendelian susceptibility to mycobacterial diseases due. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and published literature.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- rs757407762
- ClinGen CA404790570
- ClinVar RCV002903533
- ClinVar RCV002903534
- Conflicting interpretations
- Inborn genetic diseases; Mendelian susceptibility to mycobacterial diseases due
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 7.96
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Mendelian susceptibility to mycobacteri)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)