R254Q (p.Arg254Gln) variant of KIF1A (Kinesin-like protein KIF1A)
R254Q (p.Arg254Gln) 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 Spastic paraplegia 30A, autosomal dominant; Hereditary spastic paraplegia 30; Ne. 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.
R254Q (p.Arg254Gln) variant details
- p.Arg254Gln
- UniProt VAR 083699
- Pathogenic/Likely pathogenic
- Spastic paraplegia 30A, autosomal dominant; Hereditary spastic paraplegia 30; Ne
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.78
- CADD 26.30
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Spastic paraplegia 30A, autosomal dominant; Hereditary spastic p)
- 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: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)