R1186H (p.Arg1186His) variant of NPC1 (O15118)
R1186H (p.Arg1186His) 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 C; not provided; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R1186H (p.Arg1186His) variant details
- p.Arg1186His
- rs200444084
- ClinGen CA274457
- ClinVar RCV000169602
- ClinVar RCV000479463
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C; not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.91
- AlphaMissense 0.66
- MetaLR 0.94
- MetaSVM 1.06
- CADD 26.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C; not provided; Niemann-Pick disease)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the… (PMID 11333381)
- Cited in: Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific… (PMID 11349231)