Q117* (p.Gln117Ter) variant of NPC1 (O15118)
Q117* (p.Gln117Ter) in NPC1 (O15118) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
Q117* (p.Gln117Ter) variant details
- p.Gln117Ter
- rs2145527075
- ClinGen CA401785531
- ClinVar RCV001383912
- Ensembl rs2145527075
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)