C151Y (p.Cys151Tyr) variant of KIF1A (Kinesin-like protein KIF1A)
C151Y (p.Cys151Tyr) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel. The record also includes published literature.
C151Y (p.Cys151Tyr) variant details
- p.Cys151Tyr
- UniProt VAR 086852
- Conflicting interpretations
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- 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)