R213W (p.Arg213Trp) variant of IL12RB1 (P42701)
R213W (p.Arg213Trp) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.51 / 1. The record also includes population frequency data and published literature.
R213W (p.Arg213Trp) variant details
- p.Arg213Trp
- rs121434494
- ClinGen CA119245
- cosmic curated COSV59098
- ClinVar RCV000008500
- Pathogenic/Likely pathogenic
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 19.10
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Pathogenic (in IMD30)
- UniProt: Pathogenic (in IMD30)
- Most common in the REMAINING population (allele frequency 0.00048)
- Cited in: Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis. (PMID 11424023)