T258M (p.Thr258Met) variant of KIF1A (Kinesin-like protein KIF1A)
T258M (p.Thr258Met) 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; Neuropathy, hereditary sensory, type 2C; Heredita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and published literature.
T258M (p.Thr258Met) variant details
- p.Thr258Met
- UniProt VAR 083701
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia; Neuropathy, hereditary sensory, type 2C; Heredita
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.79
- CADD 25.40
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia; Neuropathy, hereditary sensory, t)
- EBI: Pathogenic (in SPG30A)
- UniProt: Pathogenic (in SPG30A)
- Population evidence available
- Cited in: KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. (PMID 31488895)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)