S30A (p.Ser30Ala) variant of SPG7 (Q9UQ90)
S30A (p.Ser30Ala) in SPG7 (Q9UQ90) is a missense 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.
S30A (p.Ser30Ala) variant details
- p.Ser30Ala
- gnomAD 16-89507735-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 4.04
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available