G14S (p.Gly14Ser) variant of SPG7 (Q9UQ90)
G14S (p.Gly14Ser) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- rs1242380690
- ClinGen CA397415871
- ClinVar RCV001201656
- TOPMed rs1242380690
- Uncertain significance
- Hereditary spastic paraplegia 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 7.59
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)