E27* (p.Glu27Ter) variant of ERCC2 (P18074)
E27* (p.Glu27Ter) in ERCC2 (P18074) 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 0.84 / 1. The record also includes population frequency data and structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- rs762622002
- ClinGen CA9513939
- ClinVar RCV003460028
- ExAC rs762622002
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.845
- CADD 38.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available