R518W (p.Arg518Trp) variant of NPC1 (O15118)
R518W (p.Arg518Trp) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R518W (p.Arg518Trp) variant details
- p.Arg518Trp
- rs377515417
- ClinGen CA8913447
- ClinVar RCV000665750
- ClinVar RCV002222586
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C1; Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.76
- CADD 27.30
- PolyPhen-2 0.59
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C1; Niemann-Pick disease, type C)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking… (PMID 11479732)
- Cited in: Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection. (PMID 27238017)