P33S (p.Pro33Ser) variant of SPAST (Spastin)
P33S (p.Pro33Ser) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- rs1403480959
- ClinGen CA346601354
- ClinVar RCV003112961
- TOPMed rs1403480959
- Uncertain significance
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.23
- CADD 21.00
- PolyPhen-2 0.03
- SIFT 0.15
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)