P38L (p.Pro38Leu) variant of SPAST (Spastin)
P38L (p.Pro38Leu) 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.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- rs1041662261
- ClinGen CA346601380
- ClinVar RCV001141199
- TOPMed rs1041662261
- Uncertain significance
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.29
- CADD 15.90
- PolyPhen-2 0.04
- SIFT 0.35
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Spastic Paraplegia 4. (PMID 20301339)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)