R316W (p.Arg316Trp) variant of KIF1A (Kinesin-like protein KIF1A)
R316W (p.Arg316Trp) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Hereditary spastic paraplegia 30; Neuropathy, hereditar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature.
R316W (p.Arg316Trp) variant details
- p.Arg316Trp
- rs672601370
- ClinGen CA212636
- ClinVar RCV000149482
- ClinVar RCV000374842
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Hereditary spastic paraplegia 30; Neuropathy, hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- AlphaMissense 0.99
- MetaLR 0.59
- MetaSVM 0.16
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Hereditary spastic paraplegia 30; Neuro)
- EBI: Pathogenic (in NESCAVS)
- UniProt: Pathogenic (in NESCAVS)
- Cited in: De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and… (PMID 25265257)
- Cited in: De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. (PMID 26125038)