S30L (p.Ser30Leu) variant of SPG7 (Q9UQ90)
S30L (p.Ser30Leu) 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.
S30L (p.Ser30Leu) variant details
- p.Ser30Leu
- rs373897303
- gnomAD 16-89507697-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- CADD 3.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available