E100* (p.Glu100Ter) variant of ABCC8 (Q09428)
E100* (p.Glu100Ter) in ABCC8 (Q09428) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E100* (p.Glu100Ter) variant details
- p.Glu100Ter
- cosmic curated COSV10645
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 36.00
- EBI: uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available