R280C (p.Arg280Cys) variant of KIF5A (Kinesin heavy chain isoform 5A)
R280C (p.Arg280Cys) 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; not provided; Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
R280C (p.Arg280Cys) variant details
- p.Arg280Cys
- rs121434442
- ClinGen CA118521
- NCI-TCGA Cosmic COSV9967
- cosmic curated COSV99673
- Pathogenic/Likely pathogenic
- Spastic paraplegia; not provided; Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Spastic paraplegia; not provided; Hereditary spastic paraplegia)
- EBI: Pathogenic (in SPG10)
- UniProt: Pathogenic (in SPG10)
- Structural context available
- Cited in: Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. (PMID 15452312)
- Cited in: Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. (PMID 18853458)