C99W (p.Cys99Trp) variant of NPC2 (P61916)
C99W (p.Cys99Trp) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
C99W (p.Cys99Trp) variant details
- p.Cys99Trp
- rs2086687936
- ClinGen CA390532384
- ClinVar RCV001806310
- Ensembl rs2086687936
- Likely pathogenic
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 1.00
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C2)
- EBI: Likely pathogenic (in NPC2)
- UniProt: Likely pathogenic (in NPC2)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)