Q88H (p.Gln88His) variant of NPC1 (O15118)
Q88H (p.Gln88His) in NPC1 (O15118) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
Q88H (p.Gln88His) variant details
- p.Gln88His
- Ensembl rs1599008867
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available