P4S (p.Pro4Ser) variant of SPAST (Spastin)
P4S (p.Pro4Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- rs937319046
- ClinGen CA45201382
- ClinVar RCV002261678
- ClinVar RCV003774805
- Uncertain significance
- Hereditary spastic paraplegia 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.47
- CADD 23.70
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)