R211P (p.Arg211Pro) variant of IL12RB1 (P42701)
R211P (p.Arg211Pro) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar 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 0.48 / 1. The record also includes population frequency data.
R211P (p.Arg211Pro) variant details
- p.Arg211Pro
- ExAC rs773520745
- TOPMed rs773520745
- gnomAD rs773520745
- Pathogenic
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mendelian susceptibility to mycobacterial diseases due to comple)
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)