R307Q (p.Arg307Gln) variant of KIF1A (Kinesin-like protein KIF1A)
R307Q (p.Arg307Gln) 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 KIF1A-related disorder; Hereditary spastic paraplegia 30; Neuropathy, hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and published literature.
R307Q (p.Arg307Gln) variant details
- p.Arg307Gln
- rs1064793161
- ClinGen CA16617510
- ClinVar RCV000480291
- ClinVar RCV000496175
- Pathogenic/Likely pathogenic
- KIF1A-related disorder; Hereditary spastic paraplegia 30; Neuropathy, hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.93
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (KIF1A-related disorder; Hereditary spastic paraplegia 30; Neurop)
- EBI: Pathogenic (in NESCAVS)
- UniProt: Pathogenic (in NESCAVS)
- Population evidence available
- Cited in: De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. (PMID 26354034)
- Cited in: Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System… (PMID 27034427)