W3X variant of GJB1 (Gap junction beta-1 protein)
W3X in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
W3X variant details
- rs863224472
- Pathogenic
- Missense
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available