L15F (p.Leu15Phe) variant of NPC1 (O15118)
L15F (p.Leu15Phe) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- rs2058428263
- gnomAD 18-23529720-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.54
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available