R175W (p.Arg175Trp) variant of IL12RB1 (P42701)
R175W (p.Arg175Trp) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.37 / 1. The record also includes population frequency data.
R175W (p.Arg175Trp) variant details
- p.Arg175Trp
- rs750667928
- ClinGen CA9305191
- ClinVar RCV003050531
- ExAC rs750667928
- Likely pathogenic
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 22.80
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Likely pathogenic (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)