V3V (p.Val3Val) variant of SPG7 (Q9UQ90)
V3V (p.Val3Val) in SPG7 (Q9UQ90) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
V3V (p.Val3Val) variant details
- p.Val3Val
- rs553241838
- gnomAD 16-89508426-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0828
- CADD 0.30
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available