G68C (p.Gly68Cys) variant of IL12RB1 (P42701)
G68C (p.Gly68Cys) 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 0.80 / 1. The record also includes population frequency data.
G68C (p.Gly68Cys) variant details
- p.Gly68Cys
- rs538026254
- ClinGen CA9305306
- ClinVar RCV002807346
- 1000Genomes rs538026254
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)