Q46X variant of SPINK5 (Q9NQ38)
Q46X in SPINK5 (Q9NQ38) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q46X variant details
- rs886039547
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available