L6V (p.Leu6Val) variant of SPG7 (Q9UQ90)
L6V (p.Leu6Val) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- gnomAD 16-89508433-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 14.30
- PolyPhen-2 0.09
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available