G104E (p.Gly104Glu) variant of IL12RB1 (P42701)
G104E (p.Gly104Glu) in IL12RB1 (P42701) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
G104E (p.Gly104Glu) variant details
- p.Gly104Glu
- rs1568514893
- NCI-TCGA Cosmic COSV5909
- cosmic curated COSV59096
- gnomAD rs1568514893
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 9.69
- PolyPhen-2 0.05
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)