L122P (p.Leu122Pro) variant of KIF1A (Kinesin-like protein KIF1A)
L122P (p.Leu122Pro) 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 Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel. The record also includes published literature and structural context.
L122P (p.Leu122Pro) variant details
- p.Leu122Pro
- rs2538415092
- ClinGen CA351309687
- ClinVar RCV003803339
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel
- Missense
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Hereditary spastic para)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)