Y54D (p.Tyr54Asp) variant of KIF1A (Kinesin-like protein KIF1A)
Y54D (p.Tyr54Asp) 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.
Y54D (p.Tyr54Asp) variant details
- p.Tyr54Asp
- UniProt VAR 086846
- Uncertain significance
- in KAND
- Missense
- 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)