G14C (p.Gly14Cys) variant of SPG7 (Q9UQ90)
G14C (p.Gly14Cys) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G14C (p.Gly14Cys) variant details
- p.Gly14Cys
- gnomAD 16-89507693-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 9.40
- Population evidence available
- Structural context available
- Literature evidence available