S215R (p.Ser215Arg) variant of KIF1A (Kinesin-like protein KIF1A)
S215R (p.Ser215Arg) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Intellectual disability, autosomal dominant 9; Hereditary spastic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
S215R (p.Ser215Arg) variant details
- p.Ser215Arg
- rs672601367
- ClinGen CA212627
- ClinVar RCV000149479
- ClinVar RCV001090762
- Pathogenic
- not provided; Intellectual disability, autosomal dominant 9; Hereditary spastic
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (not provided; Intellectual disability, autosomal dominant 9; Her)
- EBI: Pathogenic (in NESCAVS)
- UniProt: Pathogenic (in NESCAVS)
- Structural context available
- Cited in: De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and… (PMID 25265257)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)