Q46* (p.Gln46Ter) variant of SPINK5 (Q9NQ38)
Q46* (p.Gln46Ter) in SPINK5 (Q9NQ38) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q46* (p.Gln46Ter) variant details
- p.Gln46Ter
- rs886039547
- ClinGen CA10588394
- ClinVar RCV000255706
- Ensembl rs886039547
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available