G26R (p.Gly26Arg) variant of SPG7 (Q9UQ90)
G26R (p.Gly26Arg) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G26R (p.Gly26Arg) variant details
- p.Gly26Arg
- 1000Genomes rs763721899
- ExAC rs763721899
- TOPMed rs763721899
- gnomAD rs763721899
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available