P34S (p.Pro34Ser) variant of SPAST (Spastin)
P34S (p.Pro34Ser) 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 0.27 / 1. The record also includes population frequency data and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- ExAC rs749021726
- TOPMed rs749021726
- gnomAD rs749021726
- Uncertain significance
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.19
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available