G18S (p.Gly18Ser) variant of SPG7 (Q9UQ90)
G18S (p.Gly18Ser) 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 0.45 / 1. The record also includes published literature and structural context.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- rs2057959836
- ClinGen CA397415891
- ClinVar RCV003618116
- Ensembl rs2057959836
- Uncertain significance
- Hereditary spastic paraplegia 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.17
- MetaLR 0.46
- MetaSVM -0.49
- PolyPhen-2 0.10
- SIFT 0.05
- MutPred 0.14
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: SPG7-Related Neurologic Disorder. (PMID 20301286)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)