R518Q (p.Arg518Gln) variant of NPC1 (O15118)
R518Q (p.Arg518Gln) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Niemann-Pick disease, type C; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R518Q (p.Arg518Gln) variant details
- p.Arg518Gln
- rs483352886
- ClinGen CA269819
- ClinVar RCV000119327
- ClinVar RCV000725736
- Pathogenic
- not provided; Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.24
- CADD 26.10
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Pathogenic (not provided; Niemann-Pick disease, type C; Niemann-Pick disease)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)
- Cited in: Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and… (PMID 11182931)