G16S (p.Gly16Ser) variant of SPG7 (Q9UQ90)
G16S (p.Gly16Ser) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- ExAC rs766810299
- gnomAD rs766810299
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available