D76E (p.Asp76Glu) variant of NPC1 (O15118)
D76E (p.Asp76Glu) in NPC1 (O15118) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
D76E (p.Asp76Glu) variant details
- p.Asp76Glu
- TOPMed rs1387511417
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available