E267Q (p.Glu267Gln) variant of KIF1A (Kinesin-like protein KIF1A)
E267Q (p.Glu267Gln) 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; Intellectual disability, autosomal domi. The record also includes published literature.
E267Q (p.Glu267Gln) variant details
- p.Glu267Gln
- UniProt VAR 086871
- Pathogenic
- Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi
- Missense
- ClinVar: Pathogenic (Neuropathy, hereditary sensory, type 2C; Intellectual disability)
- EBI: Variant of uncertain significance (in KAND)
- UniProt: Uncertain significance (in KAND)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)