L111Q (p.Leu111Gln) variant of NPC1 (O15118)
L111Q (p.Leu111Gln) in NPC1 (O15118) is a missense change. The record also includes structural context.
L111Q (p.Leu111Gln) variant details
- p.Leu111Gln
- Ensembl rs2059164673
- Missense
- Structural context available