S652W (p.Ser652Trp) variant of NPC1 (O15118)
S652W (p.Ser652Trp) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of NPC1-related disorder; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
S652W (p.Ser652Trp) variant details
- p.Ser652Trp
- rs765652543
- ClinGen CA297059738
- ClinVar RCV003402325
- ClinVar RCV005104328
- Pathogenic/Likely pathogenic
- NPC1-related disorder; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (NPC1-related disorder; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- 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: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)