V8A (p.Val8Ala) variant of KIF1A (Kinesin-like protein KIF1A)
V8A (p.Val8Ala) 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 not provided; Neuropathy, hereditary sensory, type 2C; Hereditary spastic parapl. The record also includes published literature.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- rs2538656995
- ClinGen CA351316043
- ClinVar RCV003785297
- ClinVar RCV006437226
- Uncertain significance
- not provided; Neuropathy, hereditary sensory, type 2C; Hereditary spastic parapl
- Missense
- ClinVar: Uncertain significance (not provided; Neuropathy, hereditary sensory, type 2C; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)