V3E (p.Val3Glu) variant of SPG7 (Q9UQ90)
V3E (p.Val3Glu) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V3E (p.Val3Glu) variant details
- p.Val3Glu
- gnomAD 16-89508425-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available