W2X variant of NBN (Nibrin)
W2X in NBN (Nibrin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
W2X variant details
- rs876661130
- Likely pathogenic
- Missense
- EBI: ['likely-pathogenic']
- UniProt: Likely-pathogenic
- Structural context available