P3Q (p.Pro3Gln) variant of IL12RB1 (P42701)
P3Q (p.Pro3Gln) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and published literature.
P3Q (p.Pro3Gln) variant details
- p.Pro3Gln
- rs17884651
- ClinGen CA306141563
- ClinVar RCV001987757
- UniProt VAR 021281
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.0793
- CADD 4.14
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Variant of uncertain significance (in dbSNP:rs17884651)
- UniProt: Uncertain significance (in dbSNP:rs17884651)
- Most common in the African/African-American population (allele frequency 0.00031)
- Cited in: Polymorphisms in genes of interleukin 12 and its receptors and their association with protection against severe… (PMID 20350312)
- Cited in: A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to… (PMID 19460324)