L278P (p.Leu278Pro) variant of KIF1A (Kinesin-like protein KIF1A)
L278P (p.Leu278Pro) 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 Intellectual disability, autosomal dominant 9. The record also includes published literature.
L278P (p.Leu278Pro) variant details
- p.Leu278Pro
- UniProt VAR 086875
- Likely pathogenic
- Intellectual disability, autosomal dominant 9
- Missense
- ClinVar: Likely pathogenic (Intellectual disability, autosomal dominant 9)
- 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)