P34L (p.Pro34Leu) variant of SPAST (Spastin)
P34L (p.Pro34Leu) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs771019519
- ClinGen CA1600484
- ClinVar RCV001342255
- ExAC rs771019519
- Uncertain significance
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.18
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)