D248G (p.Asp248Gly) variant of KIF1A (Kinesin-like protein KIF1A)
D248G (p.Asp248Gly) 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.
D248G (p.Asp248Gly) variant details
- p.Asp248Gly
- UniProt VAR 086868
- Uncertain significance
- in KAND
- Missense
- EBI: Variant of uncertain significance (in KAND)
- UniProt: Uncertain significance (in KAND)
- Structural context available
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)