L5P (p.Leu5Pro) variant of SPG7 (Q9UQ90)
L5P (p.Leu5Pro) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- gnomAD rs1488107055
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 19.60
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available