R204Q (p.Arg204Gln) variant of KIF5A (Kinesin heavy chain isoform 5A)
R204Q (p.Arg204Gln) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of KIF5A-related disorder; Myoclonus, intractable, neonatal; Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R204Q (p.Arg204Gln) variant details
- p.Arg204Gln
- rs387907287
- ClinGen CA130087
- ClinVar RCV000030760
- ClinVar RCV000168349
- Pathogenic/Likely pathogenic
- KIF5A-related disorder; Myoclonus, intractable, neonatal; Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (KIF5A-related disorder; Myoclonus, intractable, neonatal; Spasti)
- EBI: Pathogenic (in SPG10)
- UniProt: Pathogenic (in SPG10)
- Structural context available
- Cited in: Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. (PMID 18853458)
- Cited in: Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type… (PMID 21623771)