L372V (p.Leu372Val) variant of KIF1A (Kinesin-like protein KIF1A)
L372V (p.Leu372Val) 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 Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel. The record also includes published literature.
L372V (p.Leu372Val) variant details
- p.Leu372Val
- rs2537927812
- ClinGen CA351295391
- ClinVar RCV003815349
- Pathogenic
- Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel
- Missense
- ClinVar: Pathogenic (Neuropathy, hereditary sensory, type 2C; Hereditary spastic para)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)