P40L (p.Pro40Leu) variant of SPAST (Spastin)
P40L (p.Pro40Leu) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- rs1183243810
- ClinGen CA346601390
- ClinVar RCV002970878
- TOPMed rs1183243810
- Likely benign
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.25
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Likely benign (Hereditary spastic paraplegia 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)