E86* (p.Glu86Ter) variant of ERCC2 (P18074)
E86* (p.Glu86Ter) 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 0.78 / 1. The record also includes structural context.
E86* (p.Glu86Ter) variant details
- p.Glu86Ter
- rs2123313191
- ClinVar RCV004576389
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.778
- AlphaMissense 0.95
- MetaLR 0.71
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available