T95I (p.Thr95Ile) variant of IL12RB1 (P42701)
T95I (p.Thr95Ile) 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 0.45 / 1. The record also includes population frequency data and published literature.
T95I (p.Thr95Ile) variant details
- p.Thr95Ile
- rs778062013
- ClinGen CA9305262
- ClinVar RCV001331413
- ClinVar RCV004987084
- Uncertain significance
- Inborn genetic diseases; Mendelian susceptibility to mycobacterial diseases due
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 20.60
- PolyPhen-2 0.30
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Mendelian susceptibility to mycobacteri)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- 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)