P19A (p.Pro19Ala) variant of SPAST (Spastin)
P19A (p.Pro19Ala) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
P19A (p.Pro19Ala) variant details
- p.Pro19Ala
- rs372349942
- ClinGen CA346601276
- ClinVar RCV004798943
- Likely pathogenic
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.08
- MetaLR 0.54
- MetaSVM -0.21
- PolyPhen-2 0.00
- SIFT 0.10
- MutPred 0.11
- ClinVar: Likely pathogenic (Hereditary spastic paraplegia 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)