S954L (p.Ser954Leu) variant of NPC1 (O15118)
S954L (p.Ser954Leu) 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 C; 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.
S954L (p.Ser954Leu) variant details
- p.Ser954Leu
- rs543206298
- ClinGen CA297014
- ClinVar RCV000158972
- ClinVar RCV000254670
- Pathogenic
- Niemann-Pick disease, type C; not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.68
- CADD 24.80
- PolyPhen-2 0.18
- SIFT 0.01
- ClinVar: Pathogenic (Niemann-Pick disease, type C; not provided; Niemann-Pick disease)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00047)
- Structural context available
- Cited in: Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. (PMID 10521290)
- Cited in: Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and… (PMID 11182931)