L684F (p.Leu684Phe) variant of NPC1 (O15118)
L684F (p.Leu684Phe) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dystonic disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
L684F (p.Leu684Phe) variant details
- p.Leu684Phe
- rs1057518942
- ClinGen CA16043539
- ClinVar RCV000415070
- UniProt VAR 043223
- Likely pathogenic
- Dystonic disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.45
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Likely pathogenic (Dystonic disorder)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- 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: Monogenic Isolated Dystonia Overview. (PMID 20301334)