R191H (p.Arg191His) variant of KIF5A (Kinesin heavy chain isoform 5A)
R191H (p.Arg191His) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Spastic paraplegia; Hereditary spastic paraplegia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R191H (p.Arg191His) variant details
- p.Arg191His
- rs1488871976
- ClinGen CA385497941
- ClinVar RCV000516106
- ClinVar RCV001391453
- Conflicting interpretations
- Spastic paraplegia; Hereditary spastic paraplegia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Spastic paraplegia; Hereditary spastic paraplegia 10; Hereditary)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)