C47* (p.Cys47Ter) variant of NPC2 (P61916)
C47* (p.Cys47Ter) in NPC2 (P61916) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NPC2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C47* (p.Cys47Ter) variant details
- p.Cys47Ter
- rs80358263
- ClinGen CA342108
- ClinVar RCV000020644
- ClinVar RCV002513144
- Pathogenic
- in NPC2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 34.00
- EBI: Pathogenic (in NPC2)
- UniProt: Pathogenic (in NPC2)
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)