S30I (p.Ser30Ile) variant of SPG7 (Q9UQ90)
S30I (p.Ser30Ile) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S30I (p.Ser30Ile) variant details
- p.Ser30Ile
- rs914604016
- gnomAD 16-89507703-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 5.08
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available