E356K (p.Glu356Lys) variant of SPAST (Spastin)
E356K (p.Glu356Lys) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Hereditary spastic paraplegia 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
E356K (p.Glu356Lys) variant details
- p.Glu356Lys
- rs1057519181
- ClinGen CA16043827
- ClinVar RCV000416011
- ClinVar RCV001391499
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Hereditary spastic paraplegia 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.94
- PolyPhen-2 0.77
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Hereditary spastic paraplegia 4; not pr)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Structural context available
- Cited in: Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. (PMID 20562464)
- Cited in: Spastic Paraplegia 4. (PMID 20301339)