Y1088C (p.Tyr1088Cys) variant of NPC1 (O15118)
Y1088C (p.Tyr1088Cys) 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 C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y1088C (p.Tyr1088Cys) variant details
- p.Tyr1088Cys
- rs28942106
- ClinGen CA115897
- ClinVar RCV000003098
- ClinVar RCV001056811
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)
- Cited in: Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and… (PMID 11182931)