E100* (p.Glu100Ter) variant of ERCC2 (P18074)
E100* (p.Glu100Ter) 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 0.40 / 1. The record also includes published literature and structural context.
E100* (p.Glu100Ter) variant details
- p.Glu100Ter
- rs964247601
- ClinGen CA406378491
- ClinVar RCV000770817
- TOPMed rs964247601
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.06
- MetaLR 0.36
- MetaSVM -0.52
- PolyPhen-2 0.01
- SIFT 0.60
- MutPred 0.55
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)