R173W (p.Arg173Trp) variant of IL12RB1 (P42701)
R173W (p.Arg173Trp) 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 0.44 / 1. The record also includes population frequency data.
R173W (p.Arg173Trp) variant details
- p.Arg173Trp
- rs144702323
- ClinGen CA9305193
- ClinVar RCV001824251
- ESP rs144702323
- Pathogenic/Likely pathogenic
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00015)