R280H (p.Arg280His) variant of KIF5A (Kinesin heavy chain isoform 5A)
R280H (p.Arg280His) 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 Spastic paraplegia; Hereditary spastic paraplegia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R280H (p.Arg280His) variant details
- p.Arg280His
- rs387907288
- ClinGen CA130088
- NCI-TCGA Cosmic COSV5405
- cosmic curated COSV54052
- Pathogenic/Likely pathogenic
- Spastic paraplegia; Hereditary spastic paraplegia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 1.03
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Spastic paraplegia; Hereditary spastic paraplegia; not provided)
- EBI: Pathogenic (in SPG10)
- UniProt: Pathogenic (in SPG10)
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. (PMID 18853458)
- Cited in: Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. (PMID 25008398)