C99F (p.Cys99Phe) variant of NPC2 (P61916)
C99F (p.Cys99Phe) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
C99F (p.Cys99Phe) variant details
- p.Cys99Phe
- rs2506104453
- ClinGen CA390532386
- ClinVar RCV003022697
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance (in NPC2)
- UniProt: Uncertain significance (in NPC2)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)