V186F (p.Val186Phe) variant of KIF1A (Kinesin-like protein KIF1A)
V186F (p.Val186Phe) 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.
V186F (p.Val186Phe) variant details
- p.Val186Phe
- UniProt VAR 083696
- Likely pathogenic
- Intellectual disability, autosomal dominant 9
- Missense
- ClinVar: Likely pathogenic (Intellectual disability, autosomal dominant 9)
- EBI: Pathogenic (in NESCAVS)
- UniProt: Pathogenic (in NESCAVS)
- Cited in: KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement. (PMID 32096284)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)