C92R (p.Cys92Arg) variant of KIF1A (Kinesin-like protein KIF1A)
C92R (p.Cys92Arg) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel. The record also includes published literature and structural context.
C92R (p.Cys92Arg) variant details
- p.Cys92Arg
- UniProt VAR 086848
- Pathogenic
- Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel
- Missense
- ClinVar: Pathogenic (Neuropathy, hereditary sensory, type 2C; Hereditary spastic para)
- EBI: Variant of uncertain significance (in KAND)
- UniProt: Uncertain significance (in KAND)
- Structural context available
- Cited in: Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A). (PMID 32652677)