P384R (p.Pro384Arg) variant of SPAST (Spastin)
P384R (p.Pro384Arg) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.94 / 1. The record also includes published literature and structural context.
P384R (p.Pro384Arg) variant details
- p.Pro384Arg
- rs1573139616
- ClinGen CA346501302
- ClinVar RCV001848142
- ClinVar RCV002543369
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia; Hereditary spastic paraplegia 4
- 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/Likely pathogenic (Hereditary spastic paraplegia; Hereditary spastic paraplegia 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Spastic Paraplegia 4. (PMID 20301339)