Q88L (p.Gln88Leu) variant of NPC1 (O15118)
Q88L (p.Gln88Leu) in NPC1 (O15118) is a missense change. The record also includes structural context.
Q88L (p.Gln88Leu) variant details
- p.Gln88Leu
- TOPMed rs1599008875
- gnomAD rs1599008875
- Missense
- Structural context available