R212Q (p.Arg212Gln) variant of IL12RB1 (P42701)
R212Q (p.Arg212Gln) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.65 / 1. The record also includes population frequency data.
R212Q (p.Arg212Gln) variant details
- p.Arg212Gln
- rs748173451
- ClinGen CA9305131
- NCI-TCGA Cosmic COSV5909
- cosmic curated COSV59097
- Pathogenic
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 22.90
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Pathogenic (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)