G14R (p.Gly14Arg) variant of SPG7 (Q9UQ90)
G14R (p.Gly14Arg) in SPG7 (Q9UQ90) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- TOPMed rs1242380690
- gnomAD rs1242380690
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 7.76
- PolyPhen-2 0.00
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available