S30P (p.Ser30Pro) variant of SPG7 (Q9UQ90)
S30P (p.Ser30Pro) in SPG7 (Q9UQ90) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S30P (p.Ser30Pro) variant details
- p.Ser30Pro
- rs201673225
- gnomAD 16-89507732-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.106
- CADD 3.56
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available