R116* (p.Arg116Ter) variant of NPC1 (O15118)
R116* (p.Arg116Ter) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R116* (p.Arg116Ter) variant details
- p.Arg116Ter
- rs144973225
- ClinGen CA8913756
- ClinVar RCV001092830
- ClinVar RCV001386168
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)