E66* (p.Glu66Ter) variant of ERCC2 (P18074)
E66* (p.Glu66Ter) in ERCC2 (P18074) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
E66* (p.Glu66Ter) variant details
- p.Glu66Ter
- ExAC rs761965639
- TOPMed rs761965639
- gnomAD rs761965639
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 46.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available