K103T (p.Lys103Thr) variant of KIF1A (Kinesin-like protein KIF1A)
K103T (p.Lys103Thr) 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 not provided. The record also includes published literature and structural context.
K103T (p.Lys103Thr) variant details
- p.Lys103Thr
- UniProt VAR 086849
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- 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)