C28S (p.Cys28Ser) variant of SPAST (Spastin)
C28S (p.Cys28Ser) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C28S (p.Cys28Ser) variant details
- p.Cys28Ser
- rs1676390484
- ClinGen CA346601326
- ClinVar RCV001238954
- TOPMed rs1676390484
- Uncertain significance
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.20
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)