E15* (p.Glu15Ter) variant of XPC (Q01831)
E15* (p.Glu15Ter) in XPC (Q01831) 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 0.31 / 1. The record also includes population frequency data and structural context.
E15* (p.Glu15Ter) variant details
- p.Glu15Ter
- rs1340359519
- ClinGen CA351543826
- ClinVar RCV003693779
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available