R120T (p.Arg120Thr) variant of IL12RB1 (P42701)
R120T (p.Arg120Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and published literature.
R120T (p.Arg120Thr) variant details
- p.Arg120Thr
- rs1455838206
- ClinGen CA404789767
- ClinVar RCV004404939
- gnomAD rs1455838206
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0566
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)