G14V (p.Gly14Val) variant of SPG7 (Q9UQ90)
G14V (p.Gly14Val) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G14V (p.Gly14Val) variant details
- p.Gly14Val
- rs767015197
- gnomAD 16-89507712-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 4.53
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available