F1167C (p.Phe1167Cys) variant of NPC1 (O15118)
F1167C (p.Phe1167Cys) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Niemann-Pick disease, type C1; Niemann-Pick disease, type C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
F1167C (p.Phe1167Cys) variant details
- p.Phe1167Cys
- rs1555632003
- ClinGen CA401791052
- ClinVar RCV000673110
- ClinVar RCV003230572
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C1; Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C1; Niemann-Pick disease, type C)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)