Q92R (p.Gln92Arg) variant of NPC1 (O15118)
Q92R (p.Gln92Arg) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q92R (p.Gln92Arg) variant details
- p.Gln92Arg
- rs2145544354
- ClinGen CA401786362
- ClinVar RCV003064506
- UniProt VAR 043174
- Pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.61
- CADD 23.80
- PolyPhen-2 0.11
- SIFT 0.03
- ClinVar: Pathogenic (Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific… (PMID 11349231)
- Cited in: Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking… (PMID 11479732)