E110Q (p.Glu110Gln) variant of NPC1 (O15118)
E110Q (p.Glu110Gln) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
E110Q (p.Glu110Gln) variant details
- p.Glu110Gln
- rs2145527241
- ClinGen CA401785737
- ClinVar RCV002050148
- Ensembl rs2145527241
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.40
- MetaLR 0.63
- MetaSVM 0.02
- PolyPhen-2 0.25
- SIFT 0.30
- EVE 0.40
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)