G15S (p.Gly15Ser) variant of SPAST (Spastin)
G15S (p.Gly15Ser) in SPAST (Spastin) is a missense change. Clinical records from ClinVar 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 0.37 / 1. The record also includes population frequency data and structural context.
G15S (p.Gly15Ser) variant details
- p.Gly15Ser
- gnomAD rs1319401583
- Uncertain significance
- Hereditary spastic paraplegia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.26
- CADD 20.50
- PolyPhen-2 0.06
- SIFT 0.30
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 4)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available