L371R (p.Leu371Arg) variant of SPAST (Spastin)
L371R (p.Leu371Arg) 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 0.89 / 1. The record also includes published literature and structural context.
L371R (p.Leu371Arg) variant details
- p.Leu371Arg
- rs1553316806
- ClinGen CA346501219
- ClinVar RCV000497447
- ClinVar RCV000709816
- Pathogenic/Likely pathogenic
- not provided; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 0.97
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary spastic paraplegia 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)