L8F (p.Leu8Phe) variant of NPC1 (O15118)
L8F (p.Leu8Phe) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- gnomAD rs1218989039
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.30
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available