R978C (p.Arg978Cys) variant of NPC1 (O15118)
R978C (p.Arg978Cys) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R978C (p.Arg978Cys) variant details
- p.Arg978Cys
- rs28942108
- ClinGen CA252501
- ClinVar RCV000003110
- ClinVar RCV000413627
- Pathogenic/Likely pathogenic
- not provided; Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.81
- AlphaMissense 0.24
- MetaLR 0.79
- MetaSVM 0.82
- CADD 32.00
- PolyPhen-2 0.95
- ClinVar: Pathogenic/Likely pathogenic (not provided; Niemann-Pick disease, type C; Niemann-Pick disease)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- 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)