L1213F (p.Leu1213Phe) variant of NPC1 (O15118)
L1213F (p.Leu1213Phe) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type C; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L1213F (p.Leu1213Phe) variant details
- p.Leu1213Phe
- rs120074131
- ClinGen CA115898
- ClinVar RCV000003099
- ClinVar RCV006456596
- Likely pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- AlphaMissense 0.93
- MetaLR 0.91
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Structural context available
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)
- Cited in: Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and… (PMID 11182931)