N968S (p.Asn968Ser) variant of NPC1 (O15118)
N968S (p.Asn968Ser) 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; Niemann-Pick disease, type C1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
N968S (p.Asn968Ser) variant details
- p.Asn968Ser
- rs773767253
- ClinGen CA8912937
- ClinVar RCV000670723
- ClinVar RCV002222596
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.47
- CADD 20.80
- PolyPhen-2 0.02
- SIFT 0.50
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C; Niemann-Pick disease, type C1; not)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C. (PMID 15774455)
- Cited in: Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2… (PMID 16126423)