S49* (p.Ser49Ter) variant of ERCC3 (P19447)
S49* (p.Ser49Ter) in ERCC3 (P19447) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S49* (p.Ser49Ter) variant details
- p.Ser49Ter
- rs2104783010
- ClinGen CA348392173
- ClinVar RCV003671621
- Ensembl rs2104783010
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available