N386S (p.Asn386Ser) variant of SPAST (Spastin)
N386S (p.Asn386Ser) 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; Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
N386S (p.Asn386Ser) variant details
- p.Asn386Ser
- rs121908514
- ClinGen CA253562
- ClinVar RCV000006023
- ClinVar RCV001847586
- Pathogenic
- Hereditary spastic paraplegia 4; Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- AlphaMissense 0.68
- MetaLR 0.69
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.09
- EVE 0.68
- ClinVar: Pathogenic (Hereditary spastic paraplegia 4; Hereditary spastic paraplegia)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Structural context available
- Cited in: Hereditary spastic paraplegia: clinical genetic study of 15 families. (PMID 15210521)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)