E28A (p.Glu28Ala) variant of IL12RB1 (P42701)
E28A (p.Glu28Ala) in IL12RB1 (P42701) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
E28A (p.Glu28Ala) variant details
- p.Glu28Ala
- ExAC rs757407762
- TOPMed rs757407762
- gnomAD rs757407762
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- CADD 6.32
- PolyPhen-2 0.01
- SIFT 0.23
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)