C99* (p.Cys99Ter) variant of NPC2 (P61916)
C99* (p.Cys99Ter) in NPC2 (P61916) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in NPC2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
C99* (p.Cys99Ter) variant details
- p.Cys99Ter
- rs2086687936
- ClinGen CA390532385
- ClinVar RCV001263850
- Ensembl rs2086687936
- Likely pathogenic
- in NPC2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.987
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- EBI: Likely pathogenic (in NPC2)
- UniProt: Likely pathogenic (in NPC2)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)