S30C (p.Ser30Cys) variant of SPG7 (Q9UQ90)
S30C (p.Ser30Cys) 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.
S30C (p.Ser30Cys) variant details
- p.Ser30Cys
- rs1342505761
- gnomAD 16-89507736-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 6.53
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available