L7P (p.Leu7Pro) variant of SPG7 (Q9UQ90)
L7P (p.Leu7Pro) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- TOPMed rs984633036
- gnomAD rs984633036
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 22.90
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available