E148K (p.Glu148Lys) variant of KIF1A (Kinesin-like protein KIF1A)
E148K (p.Glu148Lys) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes published literature.
E148K (p.Glu148Lys) variant details
- p.Glu148Lys
- UniProt VAR 086851
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- 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)