F842L (p.Phe842Leu) variant of NPC1 (O15118)
F842L (p.Phe842Leu) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Niemann-Pick disease, type C1; Niemann-Pick disease, type C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
F842L (p.Phe842Leu) variant details
- p.Phe842Leu
- rs190298665
- ClinGen CA8913061
- ClinVar RCV000596349
- ClinVar RCV000649025
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C1; Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.87
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C1; Niemann-Pick disease, type C)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)