E71* (p.Glu71Ter) variant of SPINK5 (Q9NQ38)
E71* (p.Glu71Ter) in SPINK5 (Q9NQ38) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E71* (p.Glu71Ter) variant details
- p.Glu71Ter
- rs761010013
- ClinGen CA361888756
- ClinVar RCV003596332
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available