R350W (p.Arg350Trp) variant of KIF1A (Kinesin-like protein KIF1A)
R350W (p.Arg350Trp) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
R350W (p.Arg350Trp) variant details
- p.Arg350Trp
- UniProt VAR 083705
- Likely pathogenic
- not provided; Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.93
- CADD 32.00
- ClinVar: Likely pathogenic (not provided; Hereditary spastic paraplegia 30; Neuropathy, here)
- EBI: Pathogenic (in SPG30A)
- UniProt: Pathogenic (in SPG30A)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. (PMID 31488895)
- Cited in: Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. (PMID 25585697)