E79* (p.Glu79Ter) variant of XPA (P23025)
E79* (p.Glu79Ter) in XPA (P23025) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
E79* (p.Glu79Ter) variant details
- p.Glu79Ter
- rs1554702608
- ClinGen CA374188116
- ClinVar RCV000671257
- Ensembl rs1554702608
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)