Q66X variant of KRIT1 (O00522)
Q66X in KRIT1 (O00522) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q66X variant details
- rs771656368
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available