A495V (p.Ala495Val) variant of SPAST (Spastin)
A495V (p.Ala495Val) in SPAST (Spastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary spastic paraplegia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
A495V (p.Ala495Val) variant details
- p.Ala495Val
- rs1553318347
- ClinGen CA346502534
- ClinVar RCV000578417
- Ensembl rs1553318347
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)