S30S (p.Ser30Ser) variant of SPG7 (Q9UQ90)
S30S (p.Ser30Ser) in SPG7 (Q9UQ90) is a synonymous 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.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- rs1466810011
- gnomAD 16-89507698-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0954
- CADD 2.09
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available