E3* (p.Glu3Ter) variant of SLC2A2 (P11168)
E3* (p.Glu3Ter) in SLC2A2 (P11168) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E3* (p.Glu3Ter) variant details
- p.Glu3Ter
- rs2473935676
- ClinGen CA355481275
- ClinVar RCV003402268
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available