P27Q (p.Pro27Gln) variant of SPG7 (Q9UQ90)
P27Q (p.Pro27Gln) 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 0.46 / 1. The record also includes published literature and structural context.
P27Q (p.Pro27Gln) variant details
- p.Pro27Gln
- rs878854605
- ClinGen CA397415945
- ClinVar RCV002630892
- Uncertain significance
- Hereditary spastic paraplegia 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.07
- MetaLR 0.53
- MetaSVM -0.48
- PolyPhen-2 0.05
- SIFT 0.10
- MutPred 0.23
- 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)