E1089K (p.Glu1089Lys) variant of NPC1 (O15118)
E1089K (p.Glu1089Lys) 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 C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
E1089K (p.Glu1089Lys) variant details
- p.Glu1089Lys
- rs374526072
- ClinGen CA297015
- ClinVar RCV000671618
- UniProt VAR 043283
- Pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.93
- AlphaMissense 0.74
- MetaLR 0.85
- MetaSVM 0.89
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)