P19S (p.Pro19Ser) variant of SPAST (Spastin)
P19S (p.Pro19Ser) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- rs372349942
- ClinGen CA10615118
- ClinVar RCV000317684
- ClinVar RCV004767235
- Uncertain significance
- not specified; Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.28
- AlphaMissense 0.08
- MetaLR 0.54
- MetaSVM -0.21
- CADD 18.80
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not specified; Hereditary spastic paraplegia 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)