L8V (p.Leu8Val) variant of SPG7 (Q9UQ90)
L8V (p.Leu8Val) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- ExAC rs773745485
- TOPMed rs773745485
- gnomAD rs773745485
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 9.39
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available