G21S (p.Gly21Ser) variant of IL12RB1 (P42701)
G21S (p.Gly21Ser) 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 0.40 / 1. The record also includes population frequency data and published literature.
G21S (p.Gly21Ser) variant details
- p.Gly21Ser
- rs758204377
- ClinGen CA9305390
- ClinVar RCV001964901
- ClinVar RCV004041856
- Uncertain significance
- Inborn genetic diseases; Mendelian susceptibility to mycobacterial diseases due
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 2.07
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; Mendelian susceptibility to mycobacteri)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)