L15M (p.Leu15Met) variant of NPC1 (O15118)
L15M (p.Leu15Met) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L15M (p.Leu15Met) variant details
- p.Leu15Met
- gnomAD rs1471054528
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.24
- CADD 22.30
- PolyPhen-2 0.38
- SIFT 0.09
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available