E1189G (p.Glu1189Gly) variant of NPC1 (O15118)
E1189G (p.Glu1189Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E1189G (p.Glu1189Gly) variant details
- p.Glu1189Gly
- rs369098773
- ClinGen CA8912726
- ClinVar RCV000412462
- ClinVar RCV004525924
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the REMAINING population (allele frequency 1.7e-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)