E454K (p.Glu454Lys) variant of SPAST (Spastin)
E454K (p.Glu454Lys) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E454K (p.Glu454Lys) variant details
- p.Glu454Lys
- rs1553318230
- ClinGen CA346502245
- ClinVar RCV000823324
- UniProt VAR 067571
- Pathogenic
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Hereditary spastic paraplegia 4)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Structural context available
- Cited in: Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. (PMID 20550563)
- Cited in: Spastic Paraplegia 4. (PMID 20301339)