R9S (p.Arg9Ser) variant of SPG7 (Q9UQ90)
R9S (p.Arg9Ser) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- gnomAD 16-89508442-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 20.00
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available