Q92* (p.Gln92Ter) variant of NPC1 (O15118)
Q92* (p.Gln92Ter) in NPC1 (O15118) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NPC1. 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.
Q92* (p.Gln92Ter) variant details
- p.Gln92Ter
- rs2511352133
- ClinGen CA401786363
- ClinVar RCV003500204
- Pathogenic
- in NPC1
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 40.00
- 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 Disease Type C. (PMID 20301473)