F89L (p.Phe89Leu) variant of IL12RB1 (P42701)
F89L (p.Phe89Leu) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.05 / 1. The record also includes population frequency data.
F89L (p.Phe89Leu) variant details
- p.Phe89Leu
- ExAC rs375546243
- TOPMed rs375546243
- gnomAD rs375546243
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.0524
- CADD 0.41
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)