S30G (p.Ser30Gly) variant of SPG7 (Q9UQ90)
S30G (p.Ser30Gly) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S30G (p.Ser30Gly) variant details
- p.Ser30Gly
- rs1430852191
- gnomAD 16-89507729-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- CADD 2.74
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available