R254W (p.Arg254Trp) variant of KIF1A (Kinesin-like protein KIF1A)
R254W (p.Arg254Trp) 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 Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and published literature.
R254W (p.Arg254Trp) variant details
- p.Arg254Trp
- UniProt VAR 083700
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.81
- CADD 29.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Pathogenic (in NESCAVS)
- UniProt: Pathogenic (in NESCAVS)
- Most common in the East Asian population (allele frequency 2.6e-05)
- Cited in: De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. (PMID 26354034)
- Cited in: KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement. (PMID 32096284)