C47F (p.Cys47Phe) variant of NPC2 (P61916)
C47F (p.Cys47Phe) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C47F (p.Cys47Phe) variant details
- p.Cys47Phe
- rs1555345993
- ClinGen CA390532736
- ClinVar RCV000664587
- UniProt VAR 043304
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Pathogenic (in NPC2)
- UniProt: Pathogenic (in NPC2)
- Population evidence available
- Structural context available
- Cited in: Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and… (PMID 12955717)
- Cited in: Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally… (PMID 15937921)