S30F (p.Ser30Phe) variant of SPG7 (Q9UQ90)
S30F (p.Ser30Phe) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S30F (p.Ser30Phe) variant details
- p.Ser30Phe
- rs1342505761
- gnomAD 16-89507736-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 6.97
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available