N1156S (p.Asn1156Ser) variant of NPC1 (O15118)
N1156S (p.Asn1156Ser) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
N1156S (p.Asn1156Ser) variant details
- p.Asn1156Ser
- rs28942105
- ClinGen CA252497
- ClinVar RCV000003093
- ClinVar RCV003114174
- Pathogenic
- Niemann-Pick disease, type C; not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.86
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Niemann-Pick disease, type C; not provided; Niemann-Pick disease)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the East Asian population (allele frequency 0.00019)
- 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: Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. (PMID 11545687)