C113* (p.Cys113Ter) variant of NPC1 (O15118)
C113* (p.Cys113Ter) in NPC1 (O15118) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in NPC1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C113* (p.Cys113Ter) variant details
- p.Cys113Ter
- rs2059164609
- ClinGen CA401785620
- ClinVar RCV001263844
- Ensembl rs2059164609
- Likely pathogenic
- in NPC1
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.812
- CADD 31.00
- EBI: Likely pathogenic (in NPC1)
- UniProt: Likely pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)