E148D (p.Glu148Asp) variant of KIF1A (Kinesin-like protein KIF1A)
E148D (p.Glu148Asp) 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.
E148D (p.Glu148Asp) variant details
- p.Glu148Asp
- UniProt VAR 083693
- 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: De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. (PMID 26354034)
- Cited in: Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual… (PMID 21376300)