V3A (p.Val3Ala) variant of SPG7 (Q9UQ90)
V3A (p.Val3Ala) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V3A (p.Val3Ala) variant details
- p.Val3Ala
- TOPMed rs2057958133
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 7.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available