P509T (p.Pro509Thr) variant of SPAST (Spastin)
P509T (p.Pro509Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P509T (p.Pro509Thr) variant details
- p.Pro509Thr
- rs1553319092
- ClinGen CA346502947
- ClinVar RCV000533260
- Ensembl rs1553319092
- Uncertain significance
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.95
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.07
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)