G84R (p.Gly84Arg) variant of IL12RB1 (P42701)
G84R (p.Gly84Arg) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.11 / 1. The record also includes population frequency data and published literature.
G84R (p.Gly84Arg) variant details
- p.Gly84Arg
- rs757986795
- NCI-TCGA TCGA novel
- ClinGen CA9305278
- ClinVar RCV001231529
- Uncertain significance
- Inborn genetic diseases; Mendelian susceptibility to mycobacterial diseases due
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 6.71
- PolyPhen-2 0.19
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases; Mendelian susceptibility to mycobacteri)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)