D248E (p.Asp248Glu) variant of KIF1A (Kinesin-like protein KIF1A)
D248E (p.Asp248Glu) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in KAND. The record also includes published literature and structural context.
D248E (p.Asp248Glu) variant details
- p.Asp248Glu
- UniProt VAR 086867
- Uncertain significance
- in KAND
- Missense
- 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)