L15V (p.Leu15Val) variant of NPC1 (O15118)
L15V (p.Leu15Val) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- rs1598916961
- gnomAD 18-23529722-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0848
- CADD 0.62
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available