G992R (p.Gly992Arg) variant of NPC1 (O15118)
G992R (p.Gly992Arg) 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 C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G992R (p.Gly992Arg) variant details
- p.Gly992Arg
- rs80358254
- ClinGen CA340034
- ClinVar RCV000003103
- ClinVar RCV000489250
- Pathogenic
- not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.76
- CADD 22.40
- PolyPhen-2 0.30
- SIFT 0.29
- ClinVar: Pathogenic (not provided; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- 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: Heterozygous Niemann-Pick disease type C presenting with tremor. (PMID 15596783)