L8P (p.Leu8Pro) variant of NPC1 (O15118)
L8P (p.Leu8Pro) in NPC1 (O15118) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- TOPMed rs1012718245
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available