R13H (p.Arg13His) variant of KIF1A (Kinesin-like protein KIF1A)
R13H (p.Arg13His) 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; Intellectual disability, autosomal dominant 9; Hereditary sp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and published literature.
R13H (p.Arg13His) variant details
- p.Arg13His
- rs797045050
- ClinGen CA250361
- cosmic curated COSV57487
- ClinVar RCV000191098
- Pathogenic/Likely pathogenic
- Spastic paraplegia; Intellectual disability, autosomal dominant 9; Hereditary sp
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.95
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Spastic paraplegia; Intellectual disability, autosomal dominant)
- EBI: Pathogenic (in KAND)
- UniProt: Pathogenic (in KAND)
- Population evidence available
- Cited in: A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. (PMID 28834584)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)