R254P (p.Arg254Pro) variant of KIF1A (Kinesin-like protein KIF1A)
R254P (p.Arg254Pro) 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.
R254P (p.Arg254Pro) variant details
- p.Arg254Pro
- UniProt VAR 086870
- Pathogenic
- not provided
- Missense
- ClinVar: 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)