P33L (p.Pro33Leu) variant of SPAST (Spastin)
P33L (p.Pro33Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- rs777721232
- ClinGen CA1600482
- cosmic curated COSV10582
- ClinVar RCV000424827
- Uncertain significance
- Hereditary spastic paraplegia 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.22
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)