S3* (p.Ser3Ter) variant of ERCC4 (DNA repair endonuclease XPF)
S3* (p.Ser3Ter) in ERCC4 (DNA repair endonuclease XPF) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S3* (p.Ser3Ter) variant details
- p.Ser3Ter
- ESP rs148904556
- ExAC rs148904556
- TOPMed rs148904556
- gnomAD rs148904556
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available