F66L (p.Phe66Leu) variant of NPC1 (O15118)
F66L (p.Phe66Leu) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
F66L (p.Phe66Leu) variant details
- p.Phe66Leu
- rs1464483708
- ClinGen CA401786580
- ClinVar RCV002299357
- TOPMed rs1464483708
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.15
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)