L5R (p.Leu5Arg) variant of SPG7 (Q9UQ90)
L5R (p.Leu5Arg) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L5R (p.Leu5Arg) variant details
- p.Leu5Arg
- gnomAD 16-89508431-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 18.90
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available