S13T (p.Ser13Thr) variant of SPAST (Spastin)
S13T (p.Ser13Thr) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S13T (p.Ser13Thr) variant details
- p.Ser13Thr
- rs781222498
- ClinGen CA1600460
- ClinVar RCV001903520
- ClinVar RCV002473320
- Conflicting interpretations
- not provided; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.27
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary spastic paraplegia 4)
- EBI: Likely benign
- UniProt: Likely benign
- 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)