E20X variant of NPC2 (P61916)
E20X in NPC2 (P61916) is a missense change. Clinical records from EBI and UniProt describe it as conflicting interpretations. The record also includes structural context.
E20X variant details
- rs80358260
- Conflicting interpretations
- Missense
- EBI: ['uncertain-significance', 'pathogenic']
- UniProt: Uncertain significance
- Structural context available