L371F (p.Leu371Phe) variant of SPAST (Spastin)
L371F (p.Leu371Phe) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary spastic paraplegia; Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
L371F (p.Leu371Phe) variant details
- p.Leu371Phe
- rs1060499670
- ClinGen CA16609412
- ClinVar RCV000449607
- ClinVar RCV001848797
- Likely pathogenic
- Hereditary spastic paraplegia; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.97
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Hereditary spastic paraplegia; Hereditary spastic paraplegia 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 4. (PMID 20301339)