S407N (p.Ser407Asn) variant of SPAST (Spastin)
S407N (p.Ser407Asn) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
S407N (p.Ser407Asn) variant details
- p.Ser407Asn
- rs1573142616
- ClinGen CA346501463
- ClinVar RCV000823946
- ClinVar RCV003442117
- Pathogenic/Likely pathogenic
- not provided; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- AlphaMissense 0.98
- MetaLR 0.87
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary spastic paraplegia 4)
- EBI: Pathogenic (in SPG4)
- UniProt: Pathogenic (in SPG4)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)