D37A (p.Asp37Ala) variant of NPC1 (O15118)
D37A (p.Asp37Ala) in NPC1 (O15118) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
D37A (p.Asp37Ala) variant details
- p.Asp37Ala
- ExAC rs776181190
- TOPMed rs776181190
- gnomAD rs776181190
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available