G46D (p.Gly46Asp) variant of IL12RB1 (P42701)
G46D (p.Gly46Asp) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
G46D (p.Gly46Asp) variant details
- p.Gly46Asp
- ExAC rs749421416
- TOPMed rs749421416
- gnomAD rs749421416
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)