P384L (p.Pro384Leu) variant of SPAST (Spastin)
P384L (p.Pro384Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
P384L (p.Pro384Leu) variant details
- p.Pro384Leu
- rs1573139616
- ClinGen CA346501303
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10018
- Pathogenic
- Hereditary spastic paraplegia 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Hereditary spastic paraplegia 4; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)