L275P (p.Leu275Pro) variant of KIF1A (Kinesin-like protein KIF1A)
L275P (p.Leu275Pro) 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 Inborn genetic diseases. The record also includes published literature.
L275P (p.Leu275Pro) variant details
- p.Leu275Pro
- UniProt VAR 086874
- Likely pathogenic
- Inborn genetic diseases
- Missense
- ClinVar: Likely pathogenic (Inborn genetic diseases)
- 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)