I87F (p.Ile87Phe) variant of NPC2 (P61916)
I87F (p.Ile87Phe) 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 0.55 / 1. The record also includes published literature and structural context.
I87F (p.Ile87Phe) variant details
- p.Ile87Phe
- rs779138735
- ClinGen CA390532469
- ClinVar RCV002750116
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- ESM-1b 1.00
- AlphaMissense 0.22
- MetaLR 0.34
- MetaSVM -0.64
- PolyPhen-2 0.11
- SIFT 0.04
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)