A10V (p.Ala10Val) variant of SPG7 (Q9UQ90)
A10V (p.Ala10Val) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- TOPMed rs1392123787
- gnomAD rs1392123787
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 1.75
- PolyPhen-2 0.00
- SIFT 0.98
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available