G16V (p.Gly16Val) variant of SPG7 (Q9UQ90)
G16V (p.Gly16Val) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- gnomAD 16-89508464-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 17.20
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available