V281D (p.Val281Asp) variant of KIF1A (Kinesin-like protein KIF1A)
V281D (p.Val281Asp) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel. The record also includes published literature.
V281D (p.Val281Asp) variant details
- p.Val281Asp
- rs2538258231
- ClinGen CA351302539
- ClinVar RCV002301184
- Uncertain significance
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)